Canonical Allele Identifier: CA253520
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 5527
dbSNP Id: rs121434298

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665865G>A , CM000679.2:g.39665865G>A GRCh38
NC_000017.10:g.37822118G>A , CM000679.1:g.37822118G>A GRCh37
NC_000017.9:g.35075644G>A NCBI36
NG_008892.1:g.5520G>A , LRG_210:g.5520G>A
NG_042278.1:g.2885G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000309889.3:c.260G>A MANE Select ENSP00000312624.2:p.Arg87Gln
ENST00000309889.2:c.260G>A ENSP00000312624.2:p.Arg87Gln
ENST00000578283.1:c.188G>A ENSP00000462787.1:p.Arg63Gln
NM_003673.3:c.260G>A , LRG_210t1:c.260G>A NP_003664.1:p.Arg87Gln
NM_003673.4:c.260G>A MANE Select NP_003664.1:p.Arg87Gln