Canonical Allele Identifier: CA6345709
Gene: HEPACAM HGNC NCBI

Linked Data

ClinVar Variation Id: 303331
dbSNP Id: rs201011094

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124923847G>A , CM000673.2:g.124923847G>A GRCh38
NC_000011.9:g.124793743G>A , CM000673.1:g.124793743G>A GRCh37
NC_000011.8:g.124298953G>A NCBI36
NG_029603.1:g.17566C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703807.1:c.591C>T ENSP00000515485.1:p.Pro197=
ENST00000298251.5:c.591C>T MANE Select ENSP00000298251.4:p.Pro197=
ENST00000298251.4:c.591C>T ENSP00000298251.4:p.Pro197=
ENST00000526273.1:n.363C>T
NM_152722.4:c.591C>T NP_689935.2:p.Pro197=
XM_005271449.1:c.591C>T XP_005271506.1:p.Pro197=
XM_006718786.1:c.591C>T XP_006718849.1:p.Pro197=
XM_011542669.1:c.591C>T XP_011540971.1:p.Pro197=
XM_005271449.2:c.591C>T XP_005271506.1:p.Pro197=
XM_017017361.1:c.591C>T XP_016872850.1:p.Pro197=
XR_001748429.2:n.325-19553G>A
NM_152722.5:c.591C>T MANE Select NP_689935.2:p.Pro197=