Canonical Allele Identifier: CA382034955
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1197859897
COSMIC: COSM691150

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178563G>A , CM000673.2:g.89178563G>A GRCh38
NC_000011.9:g.88911731G>A , CM000673.1:g.88911731G>A GRCh37
NC_000011.8:g.88551379G>A NCBI36
NG_008748.1:g.5692G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.610G>A MANE Select ENSP00000263321.4:p.Ala204Thr
ENST00000263321.5:c.610G>A ENSP00000263321.4:p.Ala204Thr
ENST00000526139.1:n.671G>A
NM_000372.4:c.610G>A NP_000363.1:p.Ala204Thr
XM_011542970.1:c.610G>A XP_011541272.1:p.Ala204Thr
XM_011542970.2:c.610G>A XP_011541272.1:p.Ala204Thr
XR_001748321.1:n.2718-65030C>T
XR_001748322.1:n.2733-65030C>T
NM_000372.5:c.610G>A MANE Select NP_000363.1:p.Ala204Thr