Canonical Allele Identifier: CA2695215160
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178502_89178503del , CM000673.2:g.89178502_89178503del GRCh38
NC_000011.9:g.88911670_88911671del , CM000673.1:g.88911670_88911671del GRCh37
NC_000011.8:g.88551318_88551319del NCBI36
NG_008748.1:g.5631_5632del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.549_550del MANE Select ENSP00000263321.4:p.Ser184AsnfsTer9
ENST00000263321.5:c.549_550del ENSP00000263321.4:p.Ser184AsnfsTer9
ENST00000526139.1:n.610_611del
NM_000372.4:c.549_550del NP_000363.1:p.Ser184AsnfsTer9
XM_011542970.1:c.549_550del XP_011541272.1:p.Ser184AsnfsTer9
XM_011542970.2:c.549_550del XP_011541272.1:p.Ser184AsnfsTer9
XR_001748321.1:n.2718-64967_2718-64966del
XR_001748322.1:n.2733-64967_2733-64966del
NM_000372.5:c.549_550del MANE Select NP_000363.1:p.Ser184AsnfsTer9