Canonical Allele Identifier: CA382077896
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284812A>T , CM000673.2:g.89284812A>T GRCh38
NC_000011.9:g.89017980A>T , CM000673.1:g.89017980A>T GRCh37
NC_000011.8:g.88657628A>T NCBI36
NG_008748.1:g.111941A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1224A>T MANE Select ENSP00000263321.4:p.Gln408His
ENST00000263321.5:c.1224A>T ENSP00000263321.4:p.Gln408His
ENST00000528243.1:n.222A>T
NM_000372.4:c.1224A>T NP_000363.1:p.Gln408His
XM_011542970.1:c.1224A>T XP_011541272.1:p.Gln408His
XM_011542970.2:c.1224A>T XP_011541272.1:p.Gln408His
XR_001748321.1:n.2456+1222T>A
XR_001748322.1:n.2457+1222T>A
NM_000372.5:c.1224A>T MANE Select NP_000363.1:p.Gln408His