Canonical Allele Identifier: CA259947

Gene: HEPACAM

Linked Data

• ClinVar Variation Id: 30919
• ClinVar RCV Id: RCV000023907 ; RCV000055996 ; RCV000390259 ; RCV003407358
• dbSNP Id: rs387907053
• gnomAD v4: 11-124924890-C-T
• MyVariant Identifiers: chr11:g.124794786C>T (hg19) ; chr11:g.124924890C>T (hg38)
• PubMed: PMID:20301707 ; PMID:21419380

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124924890C>T , CM000673.2:g.124924890C>T	GRCh38
NC_000011.9:g.124794786C>T , CM000673.1:g.124794786C>T	GRCh37
NC_000011.8:g.124299996C>T	NCBI36
NG_029603.1:g.16523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703807.1:c.265G>A	ENSP00000515485.1:p.Gly89Ser
ENST00000298251.5:c.265G>A MANE Select	ENSP00000298251.4:p.Gly89Ser
ENST00000298251.4:c.265G>A	ENSP00000298251.4:p.Gly89Ser
ENST00000526273.1:n.37G>A
ENST00000528971.1:n.671G>A
NM_152722.4:c.265G>A	NP_689935.2:p.Gly89Ser
XM_005271449.1:c.265G>A	XP_005271506.1:p.Gly89Ser
XM_006718786.1:c.265G>A	XP_006718849.1:p.Gly89Ser
XM_011542669.1:c.265G>A	XP_011540971.1:p.Gly89Ser
XM_005271449.2:c.265G>A	XP_005271506.1:p.Gly89Ser
XM_017017361.1:c.265G>A	XP_016872850.1:p.Gly89Ser
XR_001748429.2:n.325-18510C>T
NM_152722.5:c.265G>A MANE Select	NP_689935.2:p.Gly89Ser