Canonical Allele Identifier: CA382035520
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178741T>A , CM000673.2:g.89178741T>A GRCh38
NC_000011.9:g.88911909T>A , CM000673.1:g.88911909T>A GRCh37
NC_000011.8:g.88551557T>A NCBI36
NG_008748.1:g.5870T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.788T>A MANE Select ENSP00000263321.4:p.Leu263His
ENST00000263321.5:c.788T>A ENSP00000263321.4:p.Leu263His
ENST00000526139.1:n.849T>A
NM_000372.4:c.788T>A NP_000363.1:p.Leu263His
XM_011542970.1:c.788T>A XP_011541272.1:p.Leu263His
XM_011542970.2:c.788T>A XP_011541272.1:p.Leu263His
XR_001748321.1:n.2718-65208A>T
XR_001748322.1:n.2733-65208A>T
NM_000372.5:c.788T>A MANE Select NP_000363.1:p.Leu263His