Canonical Allele Identifier: CA8532882
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 533541
dbSNP Id: rs752435787

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665832G>A , CM000679.2:g.39665832G>A GRCh38
NC_000017.10:g.37822085G>A , CM000679.1:g.37822085G>A GRCh37
NC_000017.9:g.35075611G>A NCBI36
NG_008892.1:g.5487G>A , LRG_210:g.5487G>A
NG_042278.1:g.2852G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.227G>A MANE Select ENSP00000312624.2:p.Arg76His
ENST00000309889.2:c.227G>A ENSP00000312624.2:p.Arg76His
ENST00000578283.1:c.175-20G>A ENSP00000462787.1:n.175-20G>A
NM_003673.3:c.227G>A , LRG_210t1:c.227G>A NP_003664.1:p.Arg76His
NM_003673.4:c.227G>A MANE Select NP_003664.1:p.Arg76His