Canonical Allele Identifier: CA382034780
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1933203
ClinVar RCV Id: RCV002635860
dbSNP Id: rs1943258578
gnomAD v4: 11-89178533-A-G
MyVariant Identifiers: chr11:g.88911701A>G (hg19) chr11:g.89178533A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178533A>G , CM000673.2:g.89178533A>G GRCh38
NC_000011.9:g.88911701A>G , CM000673.1:g.88911701A>G GRCh37
NC_000011.8:g.88551349A>G NCBI36
NG_008748.1:g.5662A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.580A>G MANE Select ENSP00000263321.4:p.Ile194Val
ENST00000263321.5:c.580A>G ENSP00000263321.4:p.Ile194Val
ENST00000526139.1:n.641A>G
NM_000372.4:c.580A>G NP_000363.1:p.Ile194Val
XM_011542970.1:c.580A>G XP_011541272.1:p.Ile194Val
XM_011542970.2:c.580A>G XP_011541272.1:p.Ile194Val
XR_001748321.1:n.2718-65000T>C
XR_001748322.1:n.2733-65000T>C
NM_000372.5:c.580A>G MANE Select NP_000363.1:p.Ile194Val
Search 100 bp 5'
Search 100 bp 3'