Canonical Allele Identifier: CA6345541

Gene: HEPACAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124921191C>T , CM000673.2:g.124921191C>T	GRCh38
NC_000011.9:g.124791087C>T , CM000673.1:g.124791087C>T	GRCh37
NC_000011.8:g.124296297C>T	NCBI36
NG_029603.1:g.20222G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152722.5:c.1198G>A MANE Select	NP_689935.2:p.Val400Met
ENST00000298251.5:c.1198G>A MANE Select	ENSP00000298251.4:p.Val400Met
NM_152722.4:c.1198G>A	NP_689935.2:p.Val400Met
ENST00000298251.4:c.1198G>A	ENSP00000298251.4:p.Val400Met
ENST00000703807.1:c.1354G>A	ENSP00000515485.1:p.Val452Met
XM_005271449.1:c.1195G>A	XP_005271506.1:p.Val399Met
XM_005271449.2:c.1195G>A	XP_005271506.1:p.Val399Met
XM_006718786.1:c.1219G>A	XP_006718849.1:p.Val407Met
XM_011542669.1:c.1216G>A	XP_011540971.1:p.Val406Met
XM_017017361.1:c.1354G>A	XP_016872850.1:p.Val452Met
XR_001748429.2:n.325-22209C>T