Canonical Allele Identifier: CA476158972
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1657906
ClinVar RCV Id: RCV002175778
dbSNP Id: rs1460723498

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178652T>C , CM000673.2:g.89178652T>C GRCh38
NC_000011.9:g.88911820T>C , CM000673.1:g.88911820T>C GRCh37
NC_000011.8:g.88551468T>C NCBI36
NG_008748.1:g.5781T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.699T>C MANE Select ENSP00000263321.4:p.Ile233=
ENST00000263321.5:c.699T>C ENSP00000263321.4:p.Ile233=
ENST00000526139.1:n.760T>C
NM_000372.4:c.699T>C NP_000363.1:p.Ile233=
XM_011542970.1:c.699T>C XP_011541272.1:p.Ile233=
XM_011542970.2:c.699T>C XP_011541272.1:p.Ile233=
XR_001748321.1:n.2718-65119A>G
XR_001748322.1:n.2733-65119A>G
NM_000372.5:c.699T>C MANE Select NP_000363.1:p.Ile233=