Canonical Allele Identifier: CA8532904
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1441277
dbSNP Id: rs768942598

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665992C>G , CM000679.2:g.39665992C>G GRCh38
NC_000017.10:g.37822245C>G , CM000679.1:g.37822245C>G GRCh37
NC_000017.9:g.35075771C>G NCBI36
NG_008892.1:g.5647C>G , LRG_210:g.5647C>G
NG_042278.1:g.3012C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.387C>G MANE Select ENSP00000312624.2:p.Asp129Glu
ENST00000309889.2:c.387C>G ENSP00000312624.2:p.Asp129Glu
ENST00000578283.1:c.315C>G ENSP00000462787.1:p.Asp105Glu
NM_003673.3:c.387C>G , LRG_210t1:c.387C>G NP_003664.1:p.Asp129Glu
NM_003673.4:c.387C>G MANE Select NP_003664.1:p.Asp129Glu