Canonical Allele Identifier: CA399305298
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 937515
ClinVar RCV Id: RCV001206541
dbSNP Id: rs143233087

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665958C>A , CM000679.2:g.39665958C>A GRCh38
NC_000017.10:g.37822211C>A , CM000679.1:g.37822211C>A GRCh37
NC_000017.9:g.35075737C>A NCBI36
NG_008892.1:g.5613C>A , LRG_210:g.5613C>A
NG_042278.1:g.2978C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.353C>A MANE Select ENSP00000312624.2:p.Ala118Glu
ENST00000309889.2:c.353C>A ENSP00000312624.2:p.Ala118Glu
ENST00000578283.1:c.281C>A ENSP00000462787.1:p.Ala94Glu
NM_003673.3:c.353C>A , LRG_210t1:c.353C>A NP_003664.1:p.Ala118Glu
NM_003673.4:c.353C>A MANE Select NP_003664.1:p.Ala118Glu