Canonical Allele Identifier: CA499889269
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs749685550
MyVariant Identifiers: chr17:g.37822236G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665983G>A , CM000679.2:g.39665983G>A GRCh38
NC_000017.10:g.37822236G>A , CM000679.1:g.37822236G>A GRCh37
NC_000017.9:g.35075762G>A NCBI36
NG_008892.1:g.5638G>A , LRG_210:g.5638G>A
NG_042278.1:g.3003G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.378G>A MANE Select ENSP00000312624.2:p.Gln126=
ENST00000309889.2:c.378G>A ENSP00000312624.2:p.Gln126=
ENST00000578283.1:c.306G>A ENSP00000462787.1:p.Gln102=
NM_003673.3:c.378G>A , LRG_210t1:c.378G>A NP_003664.1:p.Gln126=
NM_003673.4:c.378G>A MANE Select NP_003664.1:p.Gln126=