Canonical Allele Identifier: CA6345623

Gene: HEPACAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124922751G>A , CM000673.2:g.124922751G>A	GRCh38
NC_000011.9:g.124792647G>A , CM000673.1:g.124792647G>A	GRCh37
NC_000011.8:g.124297857G>A	NCBI36
NG_029603.1:g.18662C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152722.5:c.871C>T MANE Select	NP_689935.2:p.Pro291Ser
ENST00000298251.5:c.871C>T MANE Select	ENSP00000298251.4:p.Pro291Ser
NM_152722.4:c.871C>T	NP_689935.2:p.Pro291Ser
ENST00000298251.4:c.871C>T	ENSP00000298251.4:p.Pro291Ser
ENST00000703807.1:c.871C>T	ENSP00000515485.1:p.Pro291Ser
XM_005271449.1:c.871C>T	XP_005271506.1:p.Pro291Ser
XM_005271449.2:c.871C>T	XP_005271506.1:p.Pro291Ser
XM_006718786.1:c.892C>T	XP_006718849.1:p.Pro298Ser
XM_011542669.1:c.892C>T	XP_011540971.1:p.Pro298Ser
XM_017017361.1:c.871C>T	XP_016872850.1:p.Pro291Ser
XR_001748429.2:n.325-20649G>A