Canonical Allele Identifier: CA399303407
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 464943
ClinVar RCV Id: RCV000536955
dbSNP Id: rs1555607027

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665721C>G , CM000679.2:g.39665721C>G GRCh38
NC_000017.10:g.37821974C>G , CM000679.1:g.37821974C>G GRCh37
NC_000017.9:g.35075500C>G NCBI36
NG_008892.1:g.5376C>G , LRG_210:g.5376C>G
NG_042278.1:g.2741C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.116C>G MANE Select ENSP00000312624.2:p.Ser39Cys
ENST00000309889.2:c.116C>G ENSP00000312624.2:p.Ser39Cys
ENST00000578283.1:c.116C>G ENSP00000462787.1:p.Ser39Cys
NM_003673.3:c.116C>G , LRG_210t1:c.116C>G NP_003664.1:p.Ser39Cys
NM_003673.4:c.116C>G MANE Select NP_003664.1:p.Ser39Cys