Canonical Allele Identifier: CA116440
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 3782
ClinVar RCV Id: RCV000003985 RCV000085916
dbSNP Id: rs61754393
ExAC: 11:89018021 G / A
gnomAD v2: 11-89018021-G-A
gnomAD v3: 11-89284853-G-A
gnomAD v4: 11-89284853-G-A
MyVariant Identifiers: chr11:g.89018021G>A (hg19) chr11:g.89284853G>A (hg38)
PubMed: PMID:1832718 PMID:1900307 PMID:1943686 PMID:2567165
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284853G>A , CM000673.2:g.89284853G>A GRCh38
NC_000011.9:g.89018021G>A , CM000673.1:g.89018021G>A GRCh37
NC_000011.8:g.88657669G>A NCBI36
NG_008748.1:g.111982G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1265G>A MANE Select ENSP00000263321.4:p.Arg422Gln
ENST00000263321.5:c.1265G>A ENSP00000263321.4:p.Arg422Gln
ENST00000528243.1:n.263G>A
NM_000372.4:c.1265G>A NP_000363.1:p.Arg422Gln
XM_011542970.1:c.1265G>A XP_011541272.1:p.Arg422Gln
XM_011542970.2:c.1265G>A XP_011541272.1:p.Arg422Gln
XR_001748321.1:n.2456+1181C>T
XR_001748322.1:n.2457+1181C>T
NM_000372.5:c.1265G>A MANE Select NP_000363.1:p.Arg422Gln
Search 100 bp 5'
Search 100 bp 3'