Canonical Allele Identifier: CA116436
Gene: TYR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3778
dbSNP Id: rs1042602

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178528C>A , CM000673.2:g.89178528C>A GRCh38
NC_000011.9:g.88911696C>A , CM000673.1:g.88911696C>A GRCh37
NC_000011.8:g.88551344C>A NCBI36
NG_008748.1:g.5657C>A

Transcript Alleles

HGVS Amino-acid change
NM_000372.4:c.575C>A VV NP_000363.1:p.Ser192Tyr
XM_011542970.1:c.575C>A XP_011541272.1:p.Ser192Tyr
XM_011542970.2:c.575C>A XP_011541272.1:p.Ser192Tyr
XR_001748321.1:n.2718-64995G>T
XR_001748322.1:n.2733-64995G>T
NM_000372.5:c.575C>A VV MANE Preferred NP_000363.1:p.Ser192Tyr
ENST00000263321.5:c.575C>A ENSP00000263321.4:p.Ser192Tyr
ENST00000526139.1:n.636C>A