Canonical Allele Identifier: CA382034747
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178530G>A , CM000673.2:g.89178530G>A GRCh38
NC_000011.9:g.88911698G>A , CM000673.1:g.88911698G>A GRCh37
NC_000011.8:g.88551346G>A NCBI36
NG_008748.1:g.5659G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.577G>A MANE Select ENSP00000263321.4:p.Glu193Lys
ENST00000263321.5:c.577G>A ENSP00000263321.4:p.Glu193Lys
ENST00000526139.1:n.638G>A
NM_000372.4:c.577G>A NP_000363.1:p.Glu193Lys
XM_011542970.1:c.577G>A XP_011541272.1:p.Glu193Lys
XM_011542970.2:c.577G>A XP_011541272.1:p.Glu193Lys
XR_001748321.1:n.2718-64997C>T
XR_001748322.1:n.2733-64997C>T
NM_000372.5:c.577G>A MANE Select NP_000363.1:p.Glu193Lys