Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483866C>T , CM000678.2:g.70483866C>T	GRCh38
NC_000016.9:g.70517769C>T , CM000678.1:g.70517769C>T	GRCh37
NC_000016.8:g.69075270C>T	NCBI36
NG_027529.1:g.44689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1890G>A	ENSP00000461912.2:n.*1890G>A
ENST00000703106.1:c.1859G>A	ENSP00000515173.1:n.1859G>A
ENST00000703107.1:c.*1743G>A	ENSP00000515174.1:n.*1743G>A
ENST00000703108.1:c.*262G>A	ENSP00000515175.1:n.*262G>A
ENST00000703109.1:c.1847G>A	ENSP00000515176.1:p.Arg616Gln
ENST00000703110.1:c.*1316G>A	ENSP00000515177.1:n.*1316G>A
ENST00000703111.1:n.1821G>A
ENST00000703112.1:n.2587G>A
ENST00000703113.1:c.*1227G>A	ENSP00000515178.1:n.*1227G>A
ENST00000703114.1:c.*463G>A	ENSP00000515179.1:n.*463G>A
ENST00000703115.1:c.927G>A	ENSP00000515180.1:n.927G>A
ENST00000323786.10:c.1814G>A MANE Select	ENSP00000315775.5:p.Arg605Gln
ENST00000564415.6:c.*1594G>A	ENSP00000456653.2:n.*1594G>A
ENST00000674443.1:c.1739G>A	ENSP00000501405.1:p.Arg580Gln
ENST00000323786.9:c.1814G>A	ENSP00000315775.5:p.Arg605Gln
ENST00000393612.8:c.1751G>A	ENSP00000377236.5:p.Arg584Gln
ENST00000482252.5:c.1961G>A	ENSP00000432802.1:n.1961G>A
ENST00000526700.5:n.990G>A
ENST00000530314.5:n.2493G>A
ENST00000564315.1:n.274G>A
ENST00000564415.5:c.*1594G>A	ENSP00000456653.1:n.*1594G>A
NM_001195139.1:c.1751G>A	NP_001182068.1:p.Arg584Gln
NM_015386.2:c.1814G>A	NP_056201.2:p.Arg605Gln
XM_011522981.1:c.1388G>A	XP_011521283.1:p.Arg463Gln
XR_933266.1:n.1760G>A
XR_933267.1:n.1760G>A
XM_011522981.3:c.1388G>A	XP_011521283.1:p.Arg463Gln
XM_024450224.1:c.833G>A	XP_024305992.1:p.Arg278Gln
XR_001751889.1:n.1697G>A
XR_933266.2:n.1760G>A
NM_015386.3:c.1814G>A MANE Select	NP_056201.2:p.Arg605Gln
NM_001195139.2:c.1739G>A	NP_001182068.2:p.Arg580Gln
NM_001365426.1:c.1388G>A	NP_001352355.1:p.Arg463Gln
NR_158212.1:n.1773G>A

Linked Data

Genomic Alleles

Transcript Alleles