Canonical Allele Identifier: CA8532824
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 862031
dbSNP Id: rs750796201

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665409G>C , CM000679.2:g.39665409G>C GRCh38
NC_000017.10:g.37821662G>C , CM000679.1:g.37821662G>C GRCh37
NC_000017.9:g.35075188G>C NCBI36
NG_008892.1:g.5064G>C , LRG_210:g.5064G>C
NG_042278.1:g.2429G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.50G>C MANE Select ENSP00000312624.2:p.Arg17Pro
ENST00000309889.2:c.50G>C ENSP00000312624.2:p.Arg17Pro
ENST00000578283.1:c.50G>C ENSP00000462787.1:p.Arg17Pro
NM_003673.3:c.50G>C , LRG_210t1:c.50G>C NP_003664.1:p.Arg17Pro
NM_003673.4:c.50G>C MANE Select NP_003664.1:p.Arg17Pro