Canonical Allele Identifier: CA382035252
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178692T>A , CM000673.2:g.89178692T>A GRCh38
NC_000011.9:g.88911860T>A , CM000673.1:g.88911860T>A GRCh37
NC_000011.8:g.88551508T>A NCBI36
NG_008748.1:g.5821T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.739T>A MANE Select ENSP00000263321.4:p.Cys247Ser
ENST00000263321.5:c.739T>A ENSP00000263321.4:p.Cys247Ser
ENST00000526139.1:n.800T>A
NM_000372.4:c.739T>A NP_000363.1:p.Cys247Ser
XM_011542970.1:c.739T>A XP_011541272.1:p.Cys247Ser
XM_011542970.2:c.739T>A XP_011541272.1:p.Cys247Ser
XR_001748321.1:n.2718-65159A>T
XR_001748322.1:n.2733-65159A>T
NM_000372.5:c.739T>A MANE Select NP_000363.1:p.Cys247Ser