Canonical Allele Identifier: CA6345780

Gene: HEPACAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124924896C>T , CM000673.2:g.124924896C>T	GRCh38
NC_000011.9:g.124794792C>T , CM000673.1:g.124794792C>T	GRCh37
NC_000011.8:g.124300002C>T	NCBI36
NG_029603.1:g.16517G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152722.5:c.259G>A MANE Select	NP_689935.2:p.Val87Ile
ENST00000298251.5:c.259G>A MANE Select	ENSP00000298251.4:p.Val87Ile
NM_152722.4:c.259G>A	NP_689935.2:p.Val87Ile
ENST00000298251.4:c.259G>A	ENSP00000298251.4:p.Val87Ile
ENST00000526273.1:n.31G>A
ENST00000528971.1:n.665G>A
ENST00000703807.1:c.259G>A	ENSP00000515485.1:p.Val87Ile
XM_005271449.1:c.259G>A	XP_005271506.1:p.Val87Ile
XM_005271449.2:c.259G>A	XP_005271506.1:p.Val87Ile
XM_006718786.1:c.259G>A	XP_006718849.1:p.Val87Ile
XM_011542669.1:c.259G>A	XP_011540971.1:p.Val87Ile
XM_017017361.1:c.259G>A	XP_016872850.1:p.Val87Ile
XR_001748429.2:n.325-18504C>T