Canonical Allele Identifier: CA2695215163
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178554del , CM000673.2:g.89178554del GRCh38
NC_000011.9:g.88911722del , CM000673.1:g.88911722del GRCh37
NC_000011.8:g.88551370del NCBI36
NG_008748.1:g.5683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.601del MANE Select ENSP00000263321.4:p.Ala201ProfsTer25
ENST00000263321.5:c.601del ENSP00000263321.4:p.Ala201ProfsTer25
ENST00000526139.1:n.662del
NM_000372.4:c.601del NP_000363.1:p.Ala201ProfsTer25
XM_011542970.1:c.601del XP_011541272.1:p.Ala201ProfsTer25
XM_011542970.2:c.601del XP_011541272.1:p.Ala201ProfsTer25
XR_001748321.1:n.2718-65021del
XR_001748322.1:n.2733-65021del
NM_000372.5:c.601del MANE Select NP_000363.1:p.Ala201ProfsTer25