Canonical Allele Identifier: CA227554
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 3788
dbSNP Id: rs61753190

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178239dup , CM000673.2:g.89178239dup GRCh38
NC_000011.9:g.88911407dup , CM000673.1:g.88911407dup GRCh37
NC_000011.8:g.88551055dup NCBI36
NG_008748.1:g.5368dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.286dup MANE Select ENSP00000263321.4:p.Met96AsnfsTer?
ENST00000263321.5:c.286dup ENSP00000263321.4:p.Met96AsnfsTer?
ENST00000526139.1:n.347dup
NM_000372.4:c.286dup NP_000363.1:p.Met96AsnfsTer?
XM_011542970.1:c.286dup XP_011541272.1:p.Met96AsnfsTer?
XM_011542970.2:c.286dup XP_011541272.1:p.Met96AsnfsTer?
XR_001748321.1:n.2718-64706dup
XR_001748322.1:n.2733-64706dup
NM_000372.5:c.286dup MANE Select NP_000363.1:p.Met96AsnfsTer?