Canonical Allele Identifier: CA2695198944
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2663760
ClinVar RCV Id: RCV003443469

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178208del , CM000673.2:g.89178208del GRCh38
NC_000011.9:g.88911376del , CM000673.1:g.88911376del GRCh37
NC_000011.8:g.88551024del NCBI36
NG_008748.1:g.5337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.255del MANE Select ENSP00000263321.4:p.Tyr85Ter
ENST00000263321.5:c.255del ENSP00000263321.4:p.Tyr85Ter
ENST00000526139.1:n.316del
NM_000372.4:c.255del NP_000363.1:p.Tyr85Ter
XM_011542970.1:c.255del XP_011541272.1:p.Tyr85Ter
XM_011542970.2:c.255del XP_011541272.1:p.Tyr85Ter
XR_001748321.1:n.2718-64675del
XR_001748322.1:n.2733-64675del
NM_000372.5:c.255del MANE Select NP_000363.1:p.Tyr85Ter