Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95032097T>A , CM000670.2:g.95032097T>A	GRCh38
NC_000008.10:g.96044325T>A , CM000670.1:g.96044325T>A	GRCh37
NC_000008.9:g.96113501T>A	NCBI36
NG_016647.1:g.12105T>A
NG_016647.2:g.141827T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519804.2:c.300T>A	ENSP00000430230.2:p.Ala100=
ENST00000697355.1:c.20T>A	ENSP00000513277.1:p.Leu7Gln
ENST00000697364.1:c.20T>A	ENSP00000513278.1:p.Leu7Gln
ENST00000396124.9:c.297+3T>A MANE Select	ENSP00000379430.4:n.297+3T>A
ENST00000396111.6:c.20T>A	ENSP00000379417.1:p.Leu7Gln
ENST00000396113.5:c.20T>A	ENSP00000379419.1:p.Leu7Gln
ENST00000396124.8:c.297+3T>A	ENSP00000379430.4:n.297+3T>A
ENST00000454358.6:c.241T>A
ENST00000517976.5:c.288T>A	ENSP00000430099.1:p.Ala96=
ENST00000518258.5:c.300T>A	ENSP00000428788.1:p.Ala100=
ENST00000518608.5:c.139-3357T>A
ENST00000519136.5:c.-153T>A	ENSP00000429585.1:n.-153T>A
ENST00000520632.5:c.276T>A	ENSP00000428666.1:p.Ala92=
ENST00000520757.1:c.238+3T>A
ENST00000522683.5:c.243T>A	ENSP00000430991.1:p.Ala81=
ENST00000523337.5:c.300T>A	ENSP00000429038.1:p.Ala100=
ENST00000523378.5:c.20T>A	ENSP00000428034.1:p.Leu7Gln
NM_152416.3:c.297+3T>A	NP_689629.2:n.297+3T>A
XM_005250789.1:c.20T>A	XP_005250846.1:p.Leu7Gln
XM_005250790.1:c.-153T>A	XP_005250847.1:n.-153T>A
XM_005250791.1:c.-284+3T>A	XP_005250848.1:n.-284+3T>A
XM_005250792.1:c.-285T>A	XP_005250849.1:n.-285T>A
XM_005250793.1:c.-354T>A	XP_005250850.1:n.-354T>A
XM_011516833.1:c.141+3T>A	XP_011515135.1:n.141+3T>A
XM_011516834.1:c.141+3T>A	XP_011515136.1:n.141+3T>A
XM_011516835.1:c.141+3T>A	XP_011515137.1:n.141+3T>A
XM_011516836.1:c.141+3T>A	XP_011515138.1:n.141+3T>A
XM_011516837.1:c.141+3T>A	XP_011515139.1:n.141+3T>A
XM_011516838.1:c.141+3T>A	XP_011515140.1:n.141+3T>A
XM_011516839.1:c.141+3T>A	XP_011515141.1:n.141+3T>A
XM_011516840.1:c.141+3T>A	XP_011515142.1:n.141+3T>A
XM_011516841.1:c.141+3T>A	XP_011515143.1:n.141+3T>A
XM_011516842.1:c.141+3T>A	XP_011515144.1:n.141+3T>A
XM_011516843.1:c.20T>A	XP_011515145.1:p.Leu7Gln
XM_011516844.1:c.-152+86T>A	XP_011515146.1:n.-152+86T>A
NM_001330582.1:c.20T>A	NP_001317511.1:p.Leu7Gln
NM_001354514.1:c.20T>A	NP_001341443.1:p.Leu7Gln
NM_001354515.1:c.20T>A	NP_001341444.1:p.Leu7Gln
NM_001354516.1:c.141+3T>A	NP_001341445.1:n.141+3T>A
NM_001354517.1:c.-36-3357T>A	NP_001341446.1:n.-36-3357T>A
NM_001354518.1:c.-153T>A	NP_001341447.1:n.-153T>A
NM_001354519.1:c.-152+3T>A	NP_001341448.1:n.-152+3T>A
NM_001354521.1:c.20T>A	NP_001341450.1:p.Leu7Gln
NM_001354522.1:c.-284+3T>A	NP_001341451.1:n.-284+3T>A
NM_001354524.1:c.-354T>A	NP_001341453.1:n.-354T>A
NM_001354525.1:c.-354T>A	NP_001341454.1:n.-354T>A
NM_001354527.1:c.-498T>A	NP_001341456.1:n.-498T>A
NM_001354528.1:c.-469T>A	NP_001341457.1:n.-469T>A
NM_001354529.1:c.-284+3T>A	NP_001341458.1:n.-284+3T>A
NM_001354530.1:c.-386+3T>A	NP_001341459.1:n.-386+3T>A
NM_001354531.1:c.-382+3T>A	NP_001341460.1:n.-382+3T>A
NM_001354532.1:c.-387T>A	NP_001341461.1:n.-387T>A
NM_001354533.1:c.-353+3T>A	NP_001341462.1:n.-353+3T>A
NM_001354534.1:c.-37+3T>A	NP_001341463.1:n.-37+3T>A
NR_148910.1:n.334T>A
NR_148911.1:n.331+3T>A
NR_148912.1:n.334T>A
NR_148913.1:n.331+3T>A
NR_148914.1:n.334T>A
NR_148915.1:n.331+3T>A
XM_005250792.2:c.-285T>A	XP_005250849.1:n.-285T>A
XM_005250793.3:c.-354T>A	XP_005250850.1:n.-354T>A
XM_011516833.2:c.141+3T>A	XP_011515135.1:n.141+3T>A
XM_011516834.2:c.141+3T>A	XP_011515136.1:n.141+3T>A
XM_011516835.2:c.141+3T>A	XP_011515137.1:n.141+3T>A
XM_011516836.2:c.141+3T>A	XP_011515138.1:n.141+3T>A
XM_011516837.2:c.141+3T>A	XP_011515139.1:n.141+3T>A
XM_011516838.2:c.141+3T>A	XP_011515140.1:n.141+3T>A
XM_011516839.2:c.141+3T>A	XP_011515141.1:n.141+3T>A
XM_011516840.2:c.141+3T>A	XP_011515142.1:n.141+3T>A
XM_011516841.2:c.141+3T>A	XP_011515143.1:n.141+3T>A
XM_011516842.2:c.141+3T>A	XP_011515144.1:n.141+3T>A
XM_017013027.2:c.141+3T>A	XP_016868516.1:n.141+3T>A
XM_017013028.1:c.141+3T>A	XP_016868517.1:n.141+3T>A
XM_017013029.1:c.141+3T>A	XP_016868518.1:n.141+3T>A
XM_017013033.2:c.20T>A	XP_016868522.1:p.Leu7Gln
XM_024447062.1:c.-37+3T>A	XP_024302830.1:n.-37+3T>A
NM_152416.4:c.297+3T>A MANE Select	NP_689629.2:n.297+3T>A
NR_148913.2:n.317+3T>A
NR_148914.2:n.320T>A
NM_001330582.2:c.20T>A	NP_001317511.1:p.Leu7Gln
NM_001354514.2:c.20T>A	NP_001341443.1:p.Leu7Gln
NM_001354515.2:c.20T>A	NP_001341444.1:p.Leu7Gln
NM_001354516.2:c.141+3T>A	NP_001341445.1:n.141+3T>A
NM_001354517.2:c.-36-3357T>A	NP_001341446.1:n.-36-3357T>A
NM_001354518.2:c.-153T>A	NP_001341447.1:n.-153T>A
NM_001354519.2:c.-152+3T>A	NP_001341448.1:n.-152+3T>A
NM_001354521.2:c.20T>A	NP_001341450.1:p.Leu7Gln
NM_001354522.2:c.-284+3T>A	NP_001341451.1:n.-284+3T>A
NM_001354524.2:c.-354T>A	NP_001341453.1:n.-354T>A
NM_001354525.2:c.-354T>A	NP_001341454.1:n.-354T>A
NM_001354527.2:c.-498T>A	NP_001341456.1:n.-498T>A
NM_001354528.2:c.-469T>A	NP_001341457.1:n.-469T>A
NM_001354529.2:c.-284+3T>A	NP_001341458.1:n.-284+3T>A
NM_001354530.2:c.-386+3T>A	NP_001341459.1:n.-386+3T>A
NM_001354531.2:c.-382+3T>A	NP_001341460.1:n.-382+3T>A
NM_001354532.2:c.-387T>A	NP_001341461.1:n.-387T>A
NM_001354533.2:c.-353+3T>A	NP_001341462.1:n.-353+3T>A
NM_001354534.2:c.-37+3T>A	NP_001341463.1:n.-37+3T>A
NR_148910.2:n.320T>A
NR_148911.2:n.317+3T>A
NR_148912.2:n.320T>A
NR_148915.2:n.317+3T>A

Linked Data

Genomic Alleles

Transcript Alleles