Canonical Allele Identifier: CA243147
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 196258
ClinVar RCV Id: RCV000177047 RCV002492769
dbSNP Id: rs180801021
ExAC: 11:88961021 A / T
gnomAD v2: 11-88961021-A-T
gnomAD v3: 11-89227853-A-T
gnomAD v4: 11-89227853-A-T
MyVariant Identifiers: chr11:g.88961021A>T (hg19) chr11:g.89227853A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89227853A>T , CM000673.2:g.89227853A>T GRCh38
NC_000011.9:g.88961021A>T , CM000673.1:g.88961021A>T GRCh37
NC_000011.8:g.88600669A>T NCBI36
NG_008748.1:g.54982A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1067A>T MANE Select ENSP00000263321.4:p.Asp356Val
ENST00000263321.5:c.1067A>T ENSP00000263321.4:p.Asp356Val
NM_000372.4:c.1067A>T NP_000363.1:p.Asp356Val
XM_011542970.1:c.1067A>T XP_011541272.1:p.Asp356Val
XM_011542970.2:c.1067A>T XP_011541272.1:p.Asp356Val
XR_001748321.1:n.2717+43607T>A
XR_001748322.1:n.2732+43607T>A
NM_000372.5:c.1067A>T MANE Select NP_000363.1:p.Asp356Val
Search 100 bp 5'
Search 100 bp 3'