Canonical Allele Identifier: CA382078135
Gene: TYR HGNC NCBI

Linked Data

COSMIC: COSM346994

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284925G>C , CM000673.2:g.89284925G>C GRCh38
NC_000011.9:g.89018093G>C , CM000673.1:g.89018093G>C GRCh37
NC_000011.8:g.88657741G>C NCBI36
NG_008748.1:g.112054G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1337G>C MANE Select ENSP00000263321.4:p.Gly446Ala
ENST00000263321.5:c.1337G>C ENSP00000263321.4:p.Gly446Ala
ENST00000528243.1:n.335G>C
NM_000372.4:c.1337G>C NP_000363.1:p.Gly446Ala
XM_011542970.1:c.1337G>C XP_011541272.1:p.Gly446Ala
XM_011542970.2:c.1337G>C XP_011541272.1:p.Gly446Ala
XR_001748321.1:n.2456+1109C>G
XR_001748322.1:n.2457+1109C>G
NM_000372.5:c.1337G>C MANE Select NP_000363.1:p.Gly446Ala