Canonical Allele Identifier: CA476321076
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2695150
ClinVar RCV Id: RCV003541958
MyVariant Identifiers: chr11:g.89018088T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284920T>C , CM000673.2:g.89284920T>C GRCh38
NC_000011.9:g.89018088T>C , CM000673.1:g.89018088T>C GRCh37
NC_000011.8:g.88657736T>C NCBI36
NG_008748.1:g.112049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1332T>C MANE Select ENSP00000263321.4:p.Asp444=
ENST00000263321.5:c.1332T>C ENSP00000263321.4:p.Asp444=
ENST00000528243.1:n.330T>C
NM_000372.4:c.1332T>C NP_000363.1:p.Asp444=
XM_011542970.1:c.1332T>C XP_011541272.1:p.Asp444=
XM_011542970.2:c.1332T>C XP_011541272.1:p.Asp444=
XR_001748321.1:n.2456+1114A>G
XR_001748322.1:n.2457+1114A>G
NM_000372.5:c.1332T>C MANE Select NP_000363.1:p.Asp444=
Search 100 bp 5'
Search 100 bp 3'