Canonical Allele Identifier: CA382078129
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284922T>A , CM000673.2:g.89284922T>A GRCh38
NC_000011.9:g.89018090T>A , CM000673.1:g.89018090T>A GRCh37
NC_000011.8:g.88657738T>A NCBI36
NG_008748.1:g.112051T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1334T>A MANE Select ENSP00000263321.4:p.Leu445Gln
ENST00000263321.5:c.1334T>A ENSP00000263321.4:p.Leu445Gln
ENST00000528243.1:n.332T>A
NM_000372.4:c.1334T>A NP_000363.1:p.Leu445Gln
XM_011542970.1:c.1334T>A XP_011541272.1:p.Leu445Gln
XM_011542970.2:c.1334T>A XP_011541272.1:p.Leu445Gln
XR_001748321.1:n.2456+1112A>T
XR_001748322.1:n.2457+1112A>T
NM_000372.5:c.1334T>A MANE Select NP_000363.1:p.Leu445Gln