Canonical Allele Identifier: CA227543

Gene: TYR

Linked Data

• ClinVar Variation Id: 3776
• ClinVar RCV Id: RCV000003975 ; RCV000085934 ; RCV000984954 ; RCV003156054 ; RCV002476921 ; RCV003466800 ; RCV004532282
• dbSNP Id: rs61753185
• ExAC: 11:88911351 G / A
• gnomAD v2: 11-88911351-G-A
• gnomAD v3: 11-89178183-G-A
• gnomAD v4: 11-89178183-G-A
• COSMIC: COSM1357650
• MyVariant Identifiers: chr11:g.88911351G>A (hg19) ; chr11:g.89178183G>A (hg38)
• PubMed: PMID:1642278 ; PMID:2113511

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178183G>A , CM000673.2:g.89178183G>A	GRCh38
NC_000011.9:g.88911351G>A , CM000673.1:g.88911351G>A	GRCh37
NC_000011.8:g.88550999G>A	NCBI36
NG_008748.1:g.5312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.230G>A MANE Select	ENSP00000263321.4:p.Arg77Gln
ENST00000263321.5:c.230G>A	ENSP00000263321.4:p.Arg77Gln
ENST00000526139.1:n.291G>A
NM_000372.4:c.230G>A	NP_000363.1:p.Arg77Gln
XM_011542970.1:c.230G>A	XP_011541272.1:p.Arg77Gln
XM_011542970.2:c.230G>A	XP_011541272.1:p.Arg77Gln
XR_001748321.1:n.2718-64650C>T
XR_001748322.1:n.2733-64650C>T
NM_000372.5:c.230G>A MANE Select	NP_000363.1:p.Arg77Gln