Canonical Allele Identifier: CA178078
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 165335
dbSNP Id: rs727503455

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665906G>A , CM000679.2:g.39665906G>A GRCh38
NC_000017.10:g.37822159G>A , CM000679.1:g.37822159G>A GRCh37
NC_000017.9:g.35075685G>A NCBI36
NG_008892.1:g.5561G>A , LRG_210:g.5561G>A
NG_042278.1:g.2926G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.301G>A MANE Select ENSP00000312624.2:p.Ala101Thr
ENST00000309889.2:c.301G>A ENSP00000312624.2:p.Ala101Thr
ENST00000578283.1:c.229G>A ENSP00000462787.1:p.Ala77Thr
NM_003673.3:c.301G>A , LRG_210t1:c.301G>A NP_003664.1:p.Ala101Thr
NM_003673.4:c.301G>A MANE Select NP_003664.1:p.Ala101Thr