Canonical Allele Identifier: CA116438
Gene: TYR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3779
dbSNP Id: rs1126809

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284793G>A , CM000673.2:g.89284793G>A GRCh38
NC_000011.9:g.89017961G>A , CM000673.1:g.89017961G>A GRCh37
NC_000011.8:g.88657609G>A NCBI36
NG_008748.1:g.111922G>A

Transcript Alleles

HGVS Amino-acid change
NM_000372.4:c.1205G>A VV NP_000363.1:p.Arg402Gln
XM_011542970.1:c.1205G>A XP_011541272.1:p.Arg402Gln
XM_011542970.2:c.1205G>A XP_011541272.1:p.Arg402Gln
XR_001748321.1:n.2456+1241C>T
XR_001748322.1:n.2457+1241C>T
NM_000372.5:c.1205G>A VV MANE Preferred NP_000363.1:p.Arg402Gln
ENST00000263321.5:c.1205G>A ENSP00000263321.4:p.Arg402Gln
ENST00000528243.1:n.203G>A