Canonical Allele Identifier: CA382034437
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2137226
ClinVar RCV Id: RCV003037424
dbSNP Id: rs1464062644

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178408C>A , CM000673.2:g.89178408C>A GRCh38
NC_000011.9:g.88911576C>A , CM000673.1:g.88911576C>A GRCh37
NC_000011.8:g.88551224C>A NCBI36
NG_008748.1:g.5537C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.455C>A MANE Select ENSP00000263321.4:p.Pro152His
ENST00000263321.5:c.455C>A ENSP00000263321.4:p.Pro152His
ENST00000526139.1:n.516C>A
NM_000372.4:c.455C>A NP_000363.1:p.Pro152His
XM_011542970.1:c.455C>A XP_011541272.1:p.Pro152His
XM_011542970.2:c.455C>A XP_011541272.1:p.Pro152His
XR_001748321.1:n.2718-64875G>T
XR_001748322.1:n.2733-64875G>T
NM_000372.5:c.455C>A MANE Select NP_000363.1:p.Pro152His