Canonical Allele Identifier: CA382035219
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178678A>T , CM000673.2:g.89178678A>T GRCh38
NC_000011.9:g.88911846A>T , CM000673.1:g.88911846A>T GRCh37
NC_000011.8:g.88551494A>T NCBI36
NG_008748.1:g.5807A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.725A>T MANE Select ENSP00000263321.4:p.Glu242Val
ENST00000263321.5:c.725A>T ENSP00000263321.4:p.Glu242Val
ENST00000526139.1:n.786A>T
NM_000372.4:c.725A>T NP_000363.1:p.Glu242Val
XM_011542970.1:c.725A>T XP_011541272.1:p.Glu242Val
XM_011542970.2:c.725A>T XP_011541272.1:p.Glu242Val
XR_001748321.1:n.2718-65145T>A
XR_001748322.1:n.2733-65145T>A
NM_000372.5:c.725A>T MANE Select NP_000363.1:p.Glu242Val