Canonical Allele Identifier: CA1989919733
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2853251
ClinVar RCV Id: RCV003695937
dbSNP Id: rs1943251200
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178229del , CM000673.2:g.89178229del GRCh38
NC_000011.9:g.88911397del , CM000673.1:g.88911397del GRCh37
NC_000011.8:g.88551045del NCBI36
NG_008748.1:g.5358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.276del MANE Select ENSP00000263321.4:p.Gly93AlafsTer27
ENST00000263321.5:c.276del ENSP00000263321.4:p.Gly93AlafsTer27
ENST00000526139.1:n.337del
NM_000372.4:c.276del NP_000363.1:p.Gly93AlafsTer27
XM_011542970.1:c.276del XP_011541272.1:p.Gly93AlafsTer27
XM_011542970.2:c.276del XP_011541272.1:p.Gly93AlafsTer27
XR_001748321.1:n.2718-64696del
XR_001748322.1:n.2733-64696del
NM_000372.5:c.276del MANE Select NP_000363.1:p.Gly93AlafsTer27
Search 100 bp 5'
Search 100 bp 3'