Canonical Allele Identifier: CA302372
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 191776
dbSNP Id: rs146906267

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665918G>C , CM000679.2:g.39665918G>C GRCh38
NC_000017.10:g.37822171G>C , CM000679.1:g.37822171G>C GRCh37
NC_000017.9:g.35075697G>C NCBI36
NG_008892.1:g.5573G>C , LRG_210:g.5573G>C
NG_042278.1:g.2938G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.313G>C MANE Select ENSP00000312624.2:p.Glu105Gln
ENST00000309889.2:c.313G>C ENSP00000312624.2:p.Glu105Gln
ENST00000578283.1:c.241G>C ENSP00000462787.1:p.Glu81Gln
NM_003673.3:c.313G>C , LRG_210t1:c.313G>C NP_003664.1:p.Glu105Gln
NM_003673.4:c.313G>C MANE Select NP_003664.1:p.Glu105Gln