Canonical Allele Identifier: CA227538

Gene: TYR

Linked Data

• ClinVar Variation Id: 3790
• ClinVar RCV Id: RCV002288461 ; RCV003466801
• dbSNP Id: rs28940879
• gnomAD v2: 11-88911285-G-A
• gnomAD v3: 11-89178117-G-A
• gnomAD v4: 11-89178117-G-A
• MyVariant Identifiers: chr11:g.88911285G>A (hg19) ; chr11:g.89178117G>A (hg38)
• PubMed: PMID:1943686

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178117G>A , CM000673.2:g.89178117G>A	GRCh38
NC_000011.9:g.88911285G>A , CM000673.1:g.88911285G>A	GRCh37
NC_000011.8:g.88550933G>A	NCBI36
NG_008748.1:g.5246G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.164G>A MANE Select	ENSP00000263321.4:p.Cys55Tyr
ENST00000263321.5:c.164G>A	ENSP00000263321.4:p.Cys55Tyr
ENST00000526139.1:n.225G>A
NM_000372.4:c.164G>A	NP_000363.1:p.Cys55Tyr
XM_011542970.1:c.164G>A	XP_011541272.1:p.Cys55Tyr
XM_011542970.2:c.164G>A	XP_011541272.1:p.Cys55Tyr
XR_001748321.1:n.2718-64584C>T
XR_001748322.1:n.2733-64584C>T
NM_000372.5:c.164G>A MANE Select	NP_000363.1:p.Cys55Tyr