Canonical Allele Identifier: CA227567
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 99568
ClinVar RCV Id: RCV000085951
dbSNP Id: rs61753259

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178479T>A , CM000673.2:g.89178479T>A GRCh38
NC_000011.9:g.88911647T>A , CM000673.1:g.88911647T>A GRCh37
NC_000011.8:g.88551295T>A NCBI36
NG_008748.1:g.5608T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.526T>A MANE Select ENSP00000263321.4:p.Phe176Ile
ENST00000263321.5:c.526T>A ENSP00000263321.4:p.Phe176Ile
ENST00000526139.1:n.587T>A
NM_000372.4:c.526T>A NP_000363.1:p.Phe176Ile
XM_011542970.1:c.526T>A XP_011541272.1:p.Phe176Ile
XM_011542970.2:c.526T>A XP_011541272.1:p.Phe176Ile
XR_001748321.1:n.2718-64946A>T
XR_001748322.1:n.2733-64946A>T
NM_000372.5:c.526T>A MANE Select NP_000363.1:p.Phe176Ile