Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95032002G>A , CM000670.2:g.95032002G>A	GRCh38
NC_000008.10:g.96044230G>A , CM000670.1:g.96044230G>A	GRCh37
NC_000008.9:g.96113406G>A	NCBI36
NG_016647.1:g.12010G>A
NG_016647.2:g.141732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000519804.2:c.205G>A	ENSP00000430230.2:p.Asp69Asn
ENST00000697355.1:c.-76G>A	ENSP00000513277.1:n.-76G>A
ENST00000697364.1:c.-76G>A	ENSP00000513278.1:n.-76G>A
ENST00000396124.9:c.205G>A MANE Select	ENSP00000379430.4:p.Asp69Asn
ENST00000396111.6:c.-76G>A	ENSP00000379417.1:n.-76G>A
ENST00000396113.5:c.-76G>A	ENSP00000379419.1:n.-76G>A
ENST00000396124.8:c.205G>A	ENSP00000379430.4:p.Asp69Asn
ENST00000454358.6:c.146G>A
ENST00000517976.5:c.193G>A	ENSP00000430099.1:p.Asp65Asn
ENST00000518258.5:c.205G>A	ENSP00000428788.1:p.Asp69Asn
ENST00000518608.5:c.139-3452G>A
ENST00000519136.5:c.-248G>A	ENSP00000429585.1:n.-248G>A
ENST00000520632.5:c.181G>A	ENSP00000428666.1:p.Asp61Asn
ENST00000520757.1:c.146G>A
ENST00000522683.5:c.148G>A	ENSP00000430991.1:p.Asp50Asn
ENST00000523337.5:c.205G>A	ENSP00000429038.1:p.Asp69Asn
ENST00000523378.5:c.-76G>A	ENSP00000428034.1:n.-76G>A
NM_152416.3:c.205G>A	NP_689629.2:p.Asp69Asn
XM_005250789.1:c.-76G>A	XP_005250846.1:n.-76G>A
XM_005250790.1:c.-248G>A	XP_005250847.1:n.-248G>A
XM_005250791.1:c.-376G>A	XP_005250848.1:n.-376G>A
XM_005250792.1:c.-380G>A	XP_005250849.1:n.-380G>A
XM_005250793.1:c.-449G>A	XP_005250850.1:n.-449G>A
XM_011516833.1:c.49G>A	XP_011515135.1:p.Asp17Asn
XM_011516834.1:c.49G>A	XP_011515136.1:p.Asp17Asn
XM_011516835.1:c.49G>A	XP_011515137.1:p.Asp17Asn
XM_011516836.1:c.49G>A	XP_011515138.1:p.Asp17Asn
XM_011516837.1:c.49G>A	XP_011515139.1:p.Asp17Asn
XM_011516838.1:c.49G>A	XP_011515140.1:p.Asp17Asn
XM_011516839.1:c.49G>A	XP_011515141.1:p.Asp17Asn
XM_011516840.1:c.49G>A	XP_011515142.1:p.Asp17Asn
XM_011516841.1:c.49G>A	XP_011515143.1:p.Asp17Asn
XM_011516842.1:c.49G>A	XP_011515144.1:p.Asp17Asn
XM_011516843.1:c.-76G>A	XP_011515145.1:n.-76G>A
XM_011516844.1:c.-161G>A	XP_011515146.1:n.-161G>A
NM_001330582.1:c.-76G>A	NP_001317511.1:n.-76G>A
NM_001354514.1:c.-76G>A	NP_001341443.1:n.-76G>A
NM_001354515.1:c.-76G>A	NP_001341444.1:n.-76G>A
NM_001354516.1:c.49G>A	NP_001341445.1:p.Asp17Asn
NM_001354517.1:c.-36-3452G>A	NP_001341446.1:n.-36-3452G>A
NM_001354518.1:c.-248G>A	NP_001341447.1:n.-248G>A
NM_001354519.1:c.-244G>A	NP_001341448.1:n.-244G>A
NM_001354521.1:c.-76G>A	NP_001341450.1:n.-76G>A
NM_001354522.1:c.-376G>A	NP_001341451.1:n.-376G>A
NM_001354524.1:c.-449G>A	NP_001341453.1:n.-449G>A
NM_001354525.1:c.-449G>A	NP_001341454.1:n.-449G>A
NM_001354527.1:c.-593G>A	NP_001341456.1:n.-593G>A
NM_001354528.1:c.-564G>A	NP_001341457.1:n.-564G>A
NM_001354529.1:c.-376G>A	NP_001341458.1:n.-376G>A
NM_001354530.1:c.-478G>A	NP_001341459.1:n.-478G>A
NM_001354531.1:c.-474G>A	NP_001341460.1:n.-474G>A
NM_001354532.1:c.-482G>A	NP_001341461.1:n.-482G>A
NM_001354533.1:c.-445G>A	NP_001341462.1:n.-445G>A
NM_001354534.1:c.-129G>A	NP_001341463.1:n.-129G>A
NR_148910.1:n.239G>A
NR_148911.1:n.239G>A
NR_148912.1:n.239G>A
NR_148913.1:n.239G>A
NR_148914.1:n.239G>A
NR_148915.1:n.239G>A
XM_005250792.2:c.-380G>A	XP_005250849.1:n.-380G>A
XM_005250793.3:c.-449G>A	XP_005250850.1:n.-449G>A
XM_011516833.2:c.49G>A	XP_011515135.1:p.Asp17Asn
XM_011516834.2:c.49G>A	XP_011515136.1:p.Asp17Asn
XM_011516835.2:c.49G>A	XP_011515137.1:p.Asp17Asn
XM_011516836.2:c.49G>A	XP_011515138.1:p.Asp17Asn
XM_011516837.2:c.49G>A	XP_011515139.1:p.Asp17Asn
XM_011516838.2:c.49G>A	XP_011515140.1:p.Asp17Asn
XM_011516839.2:c.49G>A	XP_011515141.1:p.Asp17Asn
XM_011516840.2:c.49G>A	XP_011515142.1:p.Asp17Asn
XM_011516841.2:c.49G>A	XP_011515143.1:p.Asp17Asn
XM_011516842.2:c.49G>A	XP_011515144.1:p.Asp17Asn
XM_017013027.2:c.49G>A	XP_016868516.1:p.Asp17Asn
XM_017013028.1:c.49G>A	XP_016868517.1:p.Asp17Asn
XM_017013029.1:c.49G>A	XP_016868518.1:p.Asp17Asn
XM_017013033.2:c.-76G>A	XP_016868522.1:n.-76G>A
XM_024447062.1:c.-129G>A	XP_024302830.1:n.-129G>A
NM_152416.4:c.205G>A MANE Select	NP_689629.2:p.Asp69Asn
NR_148913.2:n.225G>A
NR_148914.2:n.225G>A
NM_001330582.2:c.-76G>A	NP_001317511.1:n.-76G>A
NM_001354514.2:c.-76G>A	NP_001341443.1:n.-76G>A
NM_001354515.2:c.-76G>A	NP_001341444.1:n.-76G>A
NM_001354516.2:c.49G>A	NP_001341445.1:p.Asp17Asn
NM_001354517.2:c.-36-3452G>A	NP_001341446.1:n.-36-3452G>A
NM_001354518.2:c.-248G>A	NP_001341447.1:n.-248G>A
NM_001354519.2:c.-244G>A	NP_001341448.1:n.-244G>A
NM_001354521.2:c.-76G>A	NP_001341450.1:n.-76G>A
NM_001354522.2:c.-376G>A	NP_001341451.1:n.-376G>A
NM_001354524.2:c.-449G>A	NP_001341453.1:n.-449G>A
NM_001354525.2:c.-449G>A	NP_001341454.1:n.-449G>A
NM_001354527.2:c.-593G>A	NP_001341456.1:n.-593G>A
NM_001354528.2:c.-564G>A	NP_001341457.1:n.-564G>A
NM_001354529.2:c.-376G>A	NP_001341458.1:n.-376G>A
NM_001354530.2:c.-478G>A	NP_001341459.1:n.-478G>A
NM_001354531.2:c.-474G>A	NP_001341460.1:n.-474G>A
NM_001354532.2:c.-482G>A	NP_001341461.1:n.-482G>A
NM_001354533.2:c.-445G>A	NP_001341462.1:n.-445G>A
NM_001354534.2:c.-129G>A	NP_001341463.1:n.-129G>A
NR_148910.2:n.225G>A
NR_148911.2:n.225G>A
NR_148912.2:n.225G>A
NR_148915.2:n.225G>A

Linked Data

Genomic Alleles

Transcript Alleles