Canonical Allele Identifier: CA499889120
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 1788573
MyVariant Identifiers: chr17:g.37822083C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665830C>A , CM000679.2:g.39665830C>A GRCh38
NC_000017.10:g.37822083C>A , CM000679.1:g.37822083C>A GRCh37
NC_000017.9:g.35075609C>A NCBI36
NG_008892.1:g.5485C>A , LRG_210:g.5485C>A
NG_042278.1:g.2850C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.225C>A MANE Select ENSP00000312624.2:p.Gly75=
ENST00000309889.2:c.225C>A ENSP00000312624.2:p.Gly75=
ENST00000578283.1:c.175-22C>A ENSP00000462787.1:n.175-22C>A
NM_003673.3:c.225C>A , LRG_210t1:c.225C>A NP_003664.1:p.Gly75=
NM_003673.4:c.225C>A MANE Select NP_003664.1:p.Gly75=