Canonical Allele Identifier: CA261236
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 39977
ClinVar RCV Id: RCV000033111 RCV002513316 RCV003466887
dbSNP Id: rs137854890
ExAC: 11:88911393 G / A
gnomAD v2: 11-88911393-G-A
gnomAD v4: 11-89178225-G-A
MyVariant Identifiers: chr11:g.88911393G>A (hg19) chr11:g.89178225G>A (hg38)
PubMed: PMID:22981120
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178225G>A , CM000673.2:g.89178225G>A GRCh38
NC_000011.9:g.88911393G>A , CM000673.1:g.88911393G>A GRCh37
NC_000011.8:g.88551041G>A NCBI36
NG_008748.1:g.5354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.272G>A MANE Select ENSP00000263321.4:p.Cys91Tyr
ENST00000263321.5:c.272G>A ENSP00000263321.4:p.Cys91Tyr
ENST00000526139.1:n.333G>A
NM_000372.4:c.272G>A NP_000363.1:p.Cys91Tyr
XM_011542970.1:c.272G>A XP_011541272.1:p.Cys91Tyr
XM_011542970.2:c.272G>A XP_011541272.1:p.Cys91Tyr
XR_001748321.1:n.2718-64692C>T
XR_001748322.1:n.2733-64692C>T
NM_000372.5:c.272G>A MANE Select NP_000363.1:p.Cys91Tyr
Search 100 bp 5'
Search 100 bp 3'