Canonical Allele Identifier: CA399305851
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2113282
ClinVar RCV Id: RCV003027244

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666033T>G , CM000679.2:g.39666033T>G GRCh38
NC_000017.10:g.37822286T>G , CM000679.1:g.37822286T>G GRCh37
NC_000017.9:g.35075812T>G NCBI36
NG_008892.1:g.5688T>G , LRG_210:g.5688T>G
NG_042278.1:g.3053T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.428T>G MANE Select ENSP00000312624.2:p.Val143Gly
ENST00000309889.2:c.428T>G ENSP00000312624.2:p.Val143Gly
ENST00000578283.1:c.356T>G ENSP00000462787.1:p.Val119Gly
NM_003673.3:c.428T>G , LRG_210t1:c.428T>G NP_003664.1:p.Val143Gly
NM_003673.4:c.428T>G MANE Select NP_003664.1:p.Val143Gly