Canonical Allele Identifier: CA290434185
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1003354
dbSNP Id: rs932397209

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666050C>G , CM000679.2:g.39666050C>G GRCh38
NC_000017.10:g.37822303C>G , CM000679.1:g.37822303C>G GRCh37
NC_000017.9:g.35075829C>G NCBI36
NG_008892.1:g.5705C>G , LRG_210:g.5705C>G
NG_042278.1:g.3070C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.445C>G MANE Select ENSP00000312624.2:p.Pro149Ala
ENST00000309889.2:c.445C>G ENSP00000312624.2:p.Pro149Ala
ENST00000578283.1:c.373C>G ENSP00000462787.1:p.Pro125Ala
NM_003673.3:c.445C>G , LRG_210t1:c.445C>G NP_003664.1:p.Pro149Ala
NM_003673.4:c.445C>G MANE Select NP_003664.1:p.Pro149Ala