Canonical Allele Identifier: CA476159312
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2788719
ClinVar RCV Id: RCV003674252
dbSNP Id: rs1360472075

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178751A>G , CM000673.2:g.89178751A>G GRCh38
NC_000011.9:g.88911919A>G , CM000673.1:g.88911919A>G GRCh37
NC_000011.8:g.88551567A>G NCBI36
NG_008748.1:g.5880A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.798A>G MANE Select ENSP00000263321.4:p.Ala266=
ENST00000263321.5:c.798A>G ENSP00000263321.4:p.Ala266=
ENST00000526139.1:n.859A>G
NM_000372.4:c.798A>G NP_000363.1:p.Ala266=
XM_011542970.1:c.798A>G XP_011541272.1:p.Ala266=
XM_011542970.2:c.798A>G XP_011541272.1:p.Ala266=
XR_001748321.1:n.2718-65218T>C
XR_001748322.1:n.2733-65218T>C
NM_000372.5:c.798A>G MANE Select NP_000363.1:p.Ala266=