Canonical Allele Identifier: CA6345682

Gene: HEPACAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124923717G>A , CM000673.2:g.124923717G>A	GRCh38
NC_000011.9:g.124793613G>A , CM000673.1:g.124793613G>A	GRCh37
NC_000011.8:g.124298823G>A	NCBI36
NG_029603.1:g.17696C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152722.5:c.709+12C>T MANE Select	NP_689935.2:n.709+12C>T
ENST00000298251.5:c.709+12C>T MANE Select	ENSP00000298251.4:n.709+12C>T
NM_152722.4:c.709+12C>T	NP_689935.2:n.709+12C>T
ENST00000298251.4:c.709+12C>T	ENSP00000298251.4:n.709+12C>T
ENST00000526273.1:n.493C>T
ENST00000703807.1:c.709+12C>T	ENSP00000515485.1:n.709+12C>T
XM_005271449.1:c.709+12C>T	XP_005271506.1:n.709+12C>T
XM_005271449.2:c.709+12C>T	XP_005271506.1:n.709+12C>T
XM_006718786.1:c.709+12C>T	XP_006718849.1:n.709+12C>T
XM_011542669.1:c.709+12C>T	XP_011540971.1:n.709+12C>T
XM_017017361.1:c.709+12C>T	XP_016872850.1:n.709+12C>T
XR_001748429.2:n.325-19683G>A