Canonical Allele Identifier: CA227571

Gene: TYR

Linked Data

• ClinVar Variation Id: 99570
• ClinVar RCV Id: RCV000003988 ; RCV000085954 ; RCV003460782
• dbSNP Id: rs61754361
• ExAC: 11:88911688 TG / T
• gnomAD v2: 11-88911688-TG-T
• gnomAD v3: 11-89178520-TG-T
• gnomAD v4: 11-89178520-TG-T
• MyVariant Identifiers: chr11:g.88911693del (hg19) ; chr11:g.88911689del (hg19) ; chr11:g.89178525del (hg38) ; chr11:g.89178521del (hg38)
• PubMed: PMID:1905879

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178525del , CM000673.2:g.89178525del	GRCh38
NC_000011.9:g.88911693del , CM000673.1:g.88911693del	GRCh37
NC_000011.8:g.88551341del	NCBI36
NG_008748.1:g.5654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.572del MANE Select	ENSP00000263321.4:p.Gly191AspfsTer?
ENST00000263321.5:c.572del	ENSP00000263321.4:p.Gly191AspfsTer?
ENST00000526139.1:n.633del
NM_000372.4:c.572del	NP_000363.1:p.Gly191AspfsTer?
XM_011542970.1:c.572del	XP_011541272.1:p.Gly191AspfsTer?
XM_011542970.2:c.572del	XP_011541272.1:p.Gly191AspfsTer?
XR_001748321.1:n.2718-64988del
XR_001748322.1:n.2733-64988del
NM_000372.5:c.572del MANE Select	NP_000363.1:p.Gly191AspfsTer?