Canonical Allele Identifier: CA129534

Gene: HEPACAM

Linked Data

• ClinVar Variation Id: 30920
• ClinVar RCV Id: RCV002280810 ; RCV003314557
• dbSNP Id: rs387907054
• MyVariant Identifiers: chr11:g.124794785C>T (hg19) ; chr11:g.124924889C>T (hg38)
• PubMed: PMID:20517947 ; PMID:21419380

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124924889C>T , CM000673.2:g.124924889C>T	GRCh38
NC_000011.9:g.124794785C>T , CM000673.1:g.124794785C>T	GRCh37
NC_000011.8:g.124299995C>T	NCBI36
NG_029603.1:g.16524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703807.1:c.266G>A	ENSP00000515485.1:p.Gly89Asp
ENST00000298251.5:c.266G>A MANE Select	ENSP00000298251.4:p.Gly89Asp
ENST00000298251.4:c.266G>A	ENSP00000298251.4:p.Gly89Asp
ENST00000526273.1:n.38G>A
ENST00000528971.1:n.672G>A
NM_152722.4:c.266G>A	NP_689935.2:p.Gly89Asp
XM_005271449.1:c.266G>A	XP_005271506.1:p.Gly89Asp
XM_006718786.1:c.266G>A	XP_006718849.1:p.Gly89Asp
XM_011542669.1:c.266G>A	XP_011540971.1:p.Gly89Asp
XM_005271449.2:c.266G>A	XP_005271506.1:p.Gly89Asp
XM_017017361.1:c.266G>A	XP_016872850.1:p.Gly89Asp
XR_001748429.2:n.325-18511C>T
NM_152722.5:c.266G>A MANE Select	NP_689935.2:p.Gly89Asp