Canonical Allele Identifier: CA383144161

Gene: HEPACAM

Linked Data

• gnomAD v4: 11-124925068-G-T
• COSMIC: COSM1254102
• MyVariant Identifiers: chr11:g.124794964G>T (hg19) ; chr11:g.124925068G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124925068G>T , CM000673.2:g.124925068G>T	GRCh38
NC_000011.9:g.124794964G>T , CM000673.1:g.124794964G>T	GRCh37
NC_000011.8:g.124300174G>T	NCBI36
NG_029603.1:g.16345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703807.1:c.87C>A	ENSP00000515485.1:p.Asp29Glu
ENST00000298251.5:c.87C>A MANE Select	ENSP00000298251.4:p.Asp29Glu
ENST00000298251.4:c.87C>A	ENSP00000298251.4:p.Asp29Glu
ENST00000528971.1:n.493C>A
NM_152722.4:c.87C>A	NP_689935.2:p.Asp29Glu
XM_005271449.1:c.87C>A	XP_005271506.1:p.Asp29Glu
XM_006718786.1:c.87C>A	XP_006718849.1:p.Asp29Glu
XM_011542669.1:c.87C>A	XP_011540971.1:p.Asp29Glu
XM_005271449.2:c.87C>A	XP_005271506.1:p.Asp29Glu
XM_017017361.1:c.87C>A	XP_016872850.1:p.Asp29Glu
XR_001748429.2:n.325-18332G>T
NM_152722.5:c.87C>A MANE Select	NP_689935.2:p.Asp29Glu