Canonical Allele Identifier: CA382033815
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178181C>A , CM000673.2:g.89178181C>A GRCh38
NC_000011.9:g.88911349C>A , CM000673.1:g.88911349C>A GRCh37
NC_000011.8:g.88550997C>A NCBI36
NG_008748.1:g.5310C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.228C>A MANE Select ENSP00000263321.4:p.Asp76Glu
ENST00000263321.5:c.228C>A ENSP00000263321.4:p.Asp76Glu
ENST00000526139.1:n.289C>A
NM_000372.4:c.228C>A NP_000363.1:p.Asp76Glu
XM_011542970.1:c.228C>A XP_011541272.1:p.Asp76Glu
XM_011542970.2:c.228C>A XP_011541272.1:p.Asp76Glu
XR_001748321.1:n.2718-64648G>T
XR_001748322.1:n.2733-64648G>T
NM_000372.5:c.228C>A MANE Select NP_000363.1:p.Asp76Glu