Canonical Allele Identifier: CA6221112
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 883341
dbSNP Id: rs145513733

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178407C>T , CM000673.2:g.89178407C>T GRCh38
NC_000011.9:g.88911575C>T , CM000673.1:g.88911575C>T GRCh37
NC_000011.8:g.88551223C>T NCBI36
NG_008748.1:g.5536C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.454C>T MANE Select ENSP00000263321.4:p.Pro152Ser
ENST00000263321.5:c.454C>T ENSP00000263321.4:p.Pro152Ser
ENST00000526139.1:n.515C>T
NM_000372.4:c.454C>T NP_000363.1:p.Pro152Ser
XM_011542970.1:c.454C>T XP_011541272.1:p.Pro152Ser
XM_011542970.2:c.454C>T XP_011541272.1:p.Pro152Ser
XR_001748321.1:n.2718-64874G>A
XR_001748322.1:n.2733-64874G>A
NM_000372.5:c.454C>T MANE Select NP_000363.1:p.Pro152Ser