Canonical Allele Identifier: CA16606189

Gene: HEPACAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124921412G>T , CM000673.2:g.124921412G>T	GRCh38
NC_000011.9:g.124791308G>T , CM000673.1:g.124791308G>T	GRCh37
NC_000011.8:g.124296518G>T	NCBI36
NG_029603.1:g.20001C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152722.5:c.977C>A MANE Select	NP_689935.2:p.Ala326Asp
ENST00000298251.5:c.977C>A MANE Select	ENSP00000298251.4:p.Ala326Asp
NM_152722.4:c.977C>A	NP_689935.2:p.Ala326Asp
ENST00000298251.4:c.977C>A	ENSP00000298251.4:p.Ala326Asp
ENST00000703807.1:c.1133C>A	ENSP00000515485.1:p.Ala378Asp
XM_005271449.1:c.974C>A	XP_005271506.1:p.Ala325Asp
XM_005271449.2:c.974C>A	XP_005271506.1:p.Ala325Asp
XM_006718786.1:c.998C>A	XP_006718849.1:p.Ala333Asp
XM_011542669.1:c.995C>A	XP_011540971.1:p.Ala332Asp
XM_017017361.1:c.1133C>A	XP_016872850.1:p.Ala378Asp
XR_001748429.2:n.325-21988G>T