Canonical Allele Identifier: CA226290824
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs61759522

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178740C>A , CM000673.2:g.89178740C>A GRCh38
NC_000011.9:g.88911908C>A , CM000673.1:g.88911908C>A GRCh37
NC_000011.8:g.88551556C>A NCBI36
NG_008748.1:g.5869C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.787C>A MANE Select ENSP00000263321.4:p.Leu263Ile
ENST00000263321.5:c.787C>A ENSP00000263321.4:p.Leu263Ile
ENST00000526139.1:n.848C>A
NM_000372.4:c.787C>A NP_000363.1:p.Leu263Ile
XM_011542970.1:c.787C>A XP_011541272.1:p.Leu263Ile
XM_011542970.2:c.787C>A XP_011541272.1:p.Leu263Ile
XR_001748321.1:n.2718-65207G>T
XR_001748322.1:n.2733-65207G>T
NM_000372.5:c.787C>A MANE Select NP_000363.1:p.Leu263Ile