Canonical Allele Identifier: CA227554

Gene: TYR

Linked Data

• ClinVar Variation Id: 3788
• ClinVar RCV Id: RCV000003991 ; RCV000085942 ; RCV001813947 ; RCV003460418
• dbSNP Id: rs61753190
• gnomAD v4: 11-89178238-C-CA
• MyVariant Identifiers: chr11:g.88911407dupA (hg19) ; chr11:g.89178239dupA (hg38)
• PubMed: PMID:1905879

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?