Canonical Allele Identifier: CA382035125
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178637T>A , CM000673.2:g.89178637T>A GRCh38
NC_000011.9:g.88911805T>A , CM000673.1:g.88911805T>A GRCh37
NC_000011.8:g.88551453T>A NCBI36
NG_008748.1:g.5766T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.684T>A MANE Select ENSP00000263321.4:p.Asp228Glu
ENST00000263321.5:c.684T>A ENSP00000263321.4:p.Asp228Glu
ENST00000526139.1:n.745T>A
NM_000372.4:c.684T>A NP_000363.1:p.Asp228Glu
XM_011542970.1:c.684T>A XP_011541272.1:p.Asp228Glu
XM_011542970.2:c.684T>A XP_011541272.1:p.Asp228Glu
XR_001748321.1:n.2718-65104A>T
XR_001748322.1:n.2733-65104A>T
NM_000372.5:c.684T>A MANE Select NP_000363.1:p.Asp228Glu