Canonical Allele Identifier: CA499889136
Gene: TCAP HGNC NCBI

Linked Data

gnomAD v4: 17-39665854-G-A
MyVariant Identifiers: chr17:g.37822107G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665854G>A , CM000679.2:g.39665854G>A GRCh38
NC_000017.10:g.37822107G>A , CM000679.1:g.37822107G>A GRCh37
NC_000017.9:g.35075633G>A NCBI36
NG_008892.1:g.5509G>A , LRG_210:g.5509G>A
NG_042278.1:g.2874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.249G>A MANE Select ENSP00000312624.2:p.Leu83=
ENST00000309889.2:c.249G>A ENSP00000312624.2:p.Leu83=
ENST00000578283.1:c.177G>A ENSP00000462787.1:p.Leu59=
NM_003673.3:c.249G>A , LRG_210t1:c.249G>A NP_003664.1:p.Leu83=
NM_003673.4:c.249G>A MANE Select NP_003664.1:p.Leu83=
Search 100 bp 5'
Search 100 bp 3'