Canonical Allele Identifier: CA227554
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 3788
ClinVar RCV Id: RCV001813947 RCV003460418
dbSNP Id: rs61753190
gnomAD v4: 11-89178238-C-CA
MyVariant Identifiers: chr11:g.88911407dupA (hg19) chr11:g.89178239dupA (hg38)
PubMed: PMID:1905879
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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?
Search 100 bp 5'
Search 100 bp 3'