Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158146837G>T , CM000668.2:g.158146837G>T	GRCh38
NC_000006.11:g.158567869G>T , CM000668.1:g.158567869G>T	GRCh37
NC_000006.10:g.158487857G>T	NCBI36
NG_032889.1:g.26444C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607071.6:c.*266C>A	ENSP00000475855.1:n.*266C>A
ENST00000642244.1:c.342C>A	ENSP00000493554.1:p.Asp114Glu
ENST00000642903.1:c.432C>A	ENSP00000493559.1:p.Asp144Glu
ENST00000644972.1:c.432C>A	ENSP00000496451.1:p.Asp144Glu
ENST00000645077.1:c.*266C>A	ENSP00000496113.1:n.*266C>A
ENST00000645172.1:c.*189+2028C>A	ENSP00000495367.1:n.*189+2028C>A
ENST00000646190.1:n.1663C>A
ENST00000646208.1:c.168C>A	ENSP00000493723.1:p.Asp56Glu
ENST00000646410.1:c.303C>A	ENSP00000494205.1:p.Asp101Glu
ENST00000646562.1:c.*266C>A	ENSP00000496087.1:n.*266C>A
ENST00000647468.2:c.432C>A MANE Select	ENSP00000496731.1:p.Asp144Glu
ENST00000648111.1:c.*76C>A	ENSP00000497275.1:n.*76C>A
ENST00000367101.5:c.432C>A	ENSP00000356068.1:p.Asp144Glu
ENST00000367104.7:c.432C>A	ENSP00000356071.3:p.Asp144Glu
ENST00000606965.5:c.432C>A	ENSP00000475808.1:p.Asp144Glu
ENST00000607000.1:c.432C>A	ENSP00000475788.1:p.Asp144Glu
ENST00000607071.5:c.*266C>A	ENSP00000475855.1:n.*266C>A
ENST00000607742.5:c.*266C>A	ENSP00000475523.1:n.*266C>A
NM_032861.3:c.432C>A	NP_116250.3:p.Asp144Glu
NR_073096.1:n.574C>A
XM_006715586.1:c.222C>A	XP_006715649.1:p.Asp74Glu
XM_011536196.1:c.411C>A	XP_011534498.1:p.Asp137Glu
XM_011536197.1:c.432C>A	XP_011534499.1:p.Asp144Glu
XM_011536198.1:c.222C>A	XP_011534500.1:p.Asp74Glu
XR_942606.1:n.433C>A
XM_006715586.3:c.222C>A	XP_006715649.1:p.Asp74Glu
XM_011536196.3:c.411C>A	XP_011534498.1:p.Asp137Glu
XM_011536198.3:c.222C>A	XP_011534500.1:p.Asp74Glu
XM_024446573.1:c.432C>A	XP_024302341.1:p.Asp144Glu
XR_001743697.2:n.513C>A
XR_942606.2:n.564C>A
NM_032861.4:c.432C>A MANE Select	NP_116250.3:p.Asp144Glu
NR_073096.2:n.556C>A

Linked Data

Genomic Alleles

Transcript Alleles