Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331813G>T , CM000663.2:g.45331813G>T	GRCh38
NC_000001.10:g.45797485G>T , CM000663.1:g.45797485G>T	GRCh37
NC_000001.9:g.45570072G>T	NCBI36
NG_008189.1:g.13658C>A , LRG_220:g.13658C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.566C>A	ENSP00000410263.2:p.Pro189His
ENST00000435155.2:c.983C>A	ENSP00000403655.2:p.Pro328His
ENST00000467459.6:c.973C>A	ENSP00000435889.2:p.Pro325Thr
ENST00000483127.2:c.968C>A	ENSP00000436469.2:p.Pro323His
ENST00000485271.6:c.950C>A	ENSP00000431264.2:p.Pro317His
ENST00000529892.6:c.955+210C>A	ENSP00000432528.2:n.955+210C>A
ENST00000533178.6:c.*279C>A	ENSP00000436430.2:n.*279C>A
ENST00000672314.2:c.950C>A	ENSP00000500828.2:p.Pro317His
ENST00000710952.2:c.1034C>A MANE Plus Clinical	ENSP00000518552.2:p.Pro345His
ENST00000672818.3:c.1025C>A	ENSP00000500891.1:p.Pro342His
ENST00000456914.7:c.950C>A MANE Select	ENSP00000407590.2:p.Pro317His
ENST00000671898.1:c.1538C>A	ENSP00000499896.1:p.Pro513His
ENST00000672011.1:c.*279C>A	ENSP00000500418.1:n.*279C>A
ENST00000672314.1:c.950C>A	ENSP00000500828.1:p.Pro317His
ENST00000672593.1:c.*1176C>A	ENSP00000500455.1:n.*1176C>A
ENST00000672764.1:c.*279C>A	ENSP00000500886.1:n.*279C>A
ENST00000672818.2:c.1025C>A	ENSP00000500891.1:p.Pro342His
ENST00000673134.1:c.*647C>A	ENSP00000500526.1:n.*647C>A
ENST00000354383.10:c.953C>A	ENSP00000346354.6:p.Pro318His
ENST00000355498.6:c.950C>A	ENSP00000347685.2:p.Pro317His
ENST00000372098.7:c.1025C>A	ENSP00000361170.3:p.Pro342His
ENST00000372104.5:c.950C>A	ENSP00000361176.1:p.Pro317His
ENST00000372110.7:c.995C>A	ENSP00000361182.3:p.Pro332His
ENST00000372115.7:c.992C>A	ENSP00000361187.3:p.Pro331His
ENST00000412971.5:c.566C>A	ENSP00000410263.1:p.Pro189His
ENST00000448481.5:c.983C>A	ENSP00000409718.1:p.Pro328His
ENST00000450313.5:c.1034C>A	ENSP00000408176.1:p.Pro345His
ENST00000456914.6:c.950C>A	ENSP00000407590.2:p.Pro317His
ENST00000462388.5:n.814C>A
ENST00000466231.1:n.315C>A
ENST00000467459.5:c.367C>A	ENSP00000435889.1:p.Pro123Thr
ENST00000475516.5:c.*763C>A	ENSP00000433843.1:n.*763C>A
ENST00000481571.5:c.*763C>A	ENSP00000436597.1:n.*763C>A
ENST00000482094.5:n.271C>A
ENST00000488731.6:c.188-257C>A	ENSP00000432330.1:n.188-257C>A
ENST00000528013.6:c.992C>A	ENSP00000433130.2:p.Pro331His
ENST00000529892.5:c.177+210C>A
ENST00000529984.5:c.188-257C>A	ENSP00000437093.1:n.188-257C>A
ENST00000531105.5:c.116-2376C>A	ENSP00000431292.1:n.116-2376C>A
ENST00000533178.5:c.579C>A	ENSP00000436430.1:n.579C>A
NM_001048171.1:c.992C>A	NP_001041636.1:p.Pro331His
NM_001048172.1:c.953C>A	NP_001041637.1:p.Pro318His
NM_001048173.1:c.950C>A	NP_001041638.1:p.Pro317His
NM_001048174.1:c.950C>A	NP_001041639.1:p.Pro317His
NM_001128425.1:c.1034C>A , LRG_220t1:c.1034C>A	NP_001121897.1:p.Pro345His
NM_001293190.1:c.995C>A	NP_001280119.1:p.Pro332His
NM_001293191.1:c.983C>A	NP_001280120.1:p.Pro328His
NM_001293192.1:c.674C>A	NP_001280121.1:p.Pro225His
NM_001293195.1:c.950C>A	NP_001280124.1:p.Pro317His
NM_001293196.1:c.674C>A	NP_001280125.1:p.Pro225His
NM_012222.2:c.1025C>A	NP_036354.1:p.Pro342His
XM_011541497.1:c.1010C>A	XP_011539799.1:p.Pro337His
XM_011541498.1:c.992C>A	XP_011539800.1:p.Pro331His
XM_011541499.1:c.992C>A	XP_011539801.1:p.Pro331His
XM_011541500.1:c.992C>A	XP_011539802.1:p.Pro331His
XM_011541501.1:c.992C>A	XP_011539803.1:p.Pro331His
XM_011541502.1:c.992C>A	XP_011539804.1:p.Pro331His
XM_011541503.1:c.992C>A	XP_011539805.1:p.Pro331His
XM_011541504.1:c.983C>A	XP_011539806.1:p.Pro328His
XM_011541505.1:c.572C>A	XP_011539807.1:p.Pro191His
XM_011541506.1:c.572C>A	XP_011539808.1:p.Pro191His
XM_011541507.1:c.563C>A	XP_011539809.1:p.Pro188His
XM_011541508.1:c.578C>A	XP_011539810.1:p.Pro193His
XR_946658.1:n.1081C>A
NM_001350650.1:c.605C>A	NP_001337579.1:p.Pro202His
NM_001350651.1:c.605C>A	NP_001337580.1:p.Pro202His
NR_146882.1:n.1208C>A
NR_146883.1:n.1022C>A
XM_011541497.3:c.1010C>A	XP_011539799.1:p.Pro337His
XM_011541500.3:c.992C>A	XP_011539802.1:p.Pro331His
XM_011541501.2:c.992C>A	XP_011539803.1:p.Pro331His
XM_011541502.2:c.992C>A	XP_011539804.1:p.Pro331His
XM_011541503.2:c.992C>A	XP_011539805.1:p.Pro331His
XM_011541504.2:c.983C>A	XP_011539806.1:p.Pro328His
XM_011541505.2:c.572C>A	XP_011539807.1:p.Pro191His
XM_011541506.2:c.572C>A	XP_011539808.1:p.Pro191His
XM_017001331.1:c.992C>A	XP_016856820.1:p.Pro331His
XM_017001332.1:c.992C>A	XP_016856821.1:p.Pro331His
XM_017001333.1:c.992C>A	XP_016856822.1:p.Pro331His
XM_017001334.1:c.953C>A	XP_016856823.1:p.Pro318His
XM_017001335.1:c.674C>A	XP_016856824.1:p.Pro225His
XM_017001336.1:c.605C>A	XP_016856825.1:p.Pro202His
XM_017001337.1:c.605C>A	XP_016856826.1:p.Pro202His
XM_024447244.1:c.605C>A	XP_024303012.1:p.Pro202His
XM_024447245.1:c.605C>A	XP_024303013.1:p.Pro202His
XM_024447248.1:c.563C>A	XP_024303016.1:p.Pro188His
XM_024447249.1:c.434C>A	XP_024303017.1:p.Pro145His
XM_024447250.1:c.434C>A	XP_024303018.1:p.Pro145His
XM_024447251.1:c.434C>A	XP_024303019.1:p.Pro145His
XR_001737190.1:n.995C>A
XR_001737192.1:n.807C>A
XR_002956643.1:n.987C>A
XR_002956644.1:n.1522C>A
XR_946658.2:n.1095C>A
NM_001048171.2:c.950C>A	NP_001041636.2:p.Pro317His
NM_001128425.2:c.1034C>A MANE Plus Clinical	NP_001121897.1:p.Pro345His
NM_001048172.2:c.953C>A	NP_001041637.1:p.Pro318His
NM_001048173.2:c.950C>A	NP_001041638.1:p.Pro317His
NM_001048174.2:c.950C>A MANE Select	NP_001041639.1:p.Pro317His
NM_001293190.2:c.995C>A	NP_001280119.1:p.Pro332His
NM_001293191.2:c.983C>A	NP_001280120.1:p.Pro328His
NM_001293192.2:c.674C>A	NP_001280121.1:p.Pro225His
NM_001293195.2:c.950C>A	NP_001280124.1:p.Pro317His
NM_001293196.2:c.674C>A	NP_001280125.1:p.Pro225His
NM_001350650.2:c.605C>A	NP_001337579.1:p.Pro202His
NM_001350651.2:c.605C>A	NP_001337580.1:p.Pro202His
NM_012222.3:c.1025C>A	NP_036354.1:p.Pro342His
NR_146882.2:n.1178C>A
NR_146883.2:n.1027C>A

Linked Data

Genomic Alleles

Transcript Alleles