Canonical Allele Identifier: CA382035142
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1430468940

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178644T>G , CM000673.2:g.89178644T>G GRCh38
NC_000011.9:g.88911812T>G , CM000673.1:g.88911812T>G GRCh37
NC_000011.8:g.88551460T>G NCBI36
NG_008748.1:g.5773T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.691T>G MANE Select ENSP00000263321.4:p.Phe231Val
ENST00000263321.5:c.691T>G ENSP00000263321.4:p.Phe231Val
ENST00000526139.1:n.752T>G
NM_000372.4:c.691T>G NP_000363.1:p.Phe231Val
XM_011542970.1:c.691T>G XP_011541272.1:p.Phe231Val
XM_011542970.2:c.691T>G XP_011541272.1:p.Phe231Val
XR_001748321.1:n.2718-65111A>C
XR_001748322.1:n.2733-65111A>C
NM_000372.5:c.691T>G MANE Select NP_000363.1:p.Phe231Val