Canonical Allele Identifier: CA476159155
Gene: TYR HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.88911871G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178703G>A , CM000673.2:g.89178703G>A GRCh38
NC_000011.9:g.88911871G>A , CM000673.1:g.88911871G>A GRCh37
NC_000011.8:g.88551519G>A NCBI36
NG_008748.1:g.5832G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.750G>A MANE Select ENSP00000263321.4:p.Glu250=
ENST00000263321.5:c.750G>A ENSP00000263321.4:p.Glu250=
ENST00000526139.1:n.811G>A
NM_000372.4:c.750G>A NP_000363.1:p.Glu250=
XM_011542970.1:c.750G>A XP_011541272.1:p.Glu250=
XM_011542970.2:c.750G>A XP_011541272.1:p.Glu250=
XR_001748321.1:n.2718-65170C>T
XR_001748322.1:n.2733-65170C>T
NM_000372.5:c.750G>A MANE Select NP_000363.1:p.Glu250=