Canonical Allele Identifier: CA382034006
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2137225
ClinVar RCV Id: RCV003062443
dbSNP Id: rs1943250983
MyVariant Identifiers: chr11:g.88911387G>A (hg19) chr11:g.89178219G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178219G>A , CM000673.2:g.89178219G>A GRCh38
NC_000011.9:g.88911387G>A , CM000673.1:g.88911387G>A GRCh37
NC_000011.8:g.88551035G>A NCBI36
NG_008748.1:g.5348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.266G>A MANE Select ENSP00000263321.4:p.Cys89Tyr
ENST00000263321.5:c.266G>A ENSP00000263321.4:p.Cys89Tyr
ENST00000526139.1:n.327G>A
NM_000372.4:c.266G>A NP_000363.1:p.Cys89Tyr
XM_011542970.1:c.266G>A XP_011541272.1:p.Cys89Tyr
XM_011542970.2:c.266G>A XP_011541272.1:p.Cys89Tyr
XR_001748321.1:n.2718-64686C>T
XR_001748322.1:n.2733-64686C>T
NM_000372.5:c.266G>A MANE Select NP_000363.1:p.Cys89Tyr
Search 100 bp 5'
Search 100 bp 3'