Canonical Allele Identifier: CA499889288
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs2145074303
MyVariant Identifiers: chr17:g.37822251G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665998G>A , CM000679.2:g.39665998G>A GRCh38
NC_000017.10:g.37822251G>A , CM000679.1:g.37822251G>A GRCh37
NC_000017.9:g.35075777G>A NCBI36
NG_008892.1:g.5653G>A , LRG_210:g.5653G>A
NG_042278.1:g.3018G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.393G>A MANE Select ENSP00000312624.2:p.Gln131=
ENST00000309889.2:c.393G>A ENSP00000312624.2:p.Gln131=
ENST00000578283.1:c.321G>A ENSP00000462787.1:p.Gln107=
NM_003673.3:c.393G>A , LRG_210t1:c.393G>A NP_003664.1:p.Gln131=
NM_003673.4:c.393G>A MANE Select NP_003664.1:p.Gln131=