Canonical Allele Identifier: CA6221333

Gene: TYR

Linked Data

• ClinVar Variation Id: 437986
• ClinVar RCV Id: RCV000504775 ; RCV003464078 ; RCV002524403 ; RCV003325487
• dbSNP Id: rs773970123
• ExAC: 11:88960991 G / T
• gnomAD v2: 11-88960991-G-T
• gnomAD v3: 11-89227823-G-T
• gnomAD v4: 11-89227823-G-T
• COSMIC: COSM371017
• MyVariant Identifiers: chr11:g.88960991G>T (hg19) ; chr11:g.89227823G>T (hg38)
• PubMed: PMID:16098056 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89227823G>T , CM000673.2:g.89227823G>T	GRCh38
NC_000011.9:g.88960991G>T , CM000673.1:g.88960991G>T	GRCh37
NC_000011.8:g.88600639G>T	NCBI36
NG_008748.1:g.54952G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1037G>T MANE Select	ENSP00000263321.4:p.Gly346Val
ENST00000263321.5:c.1037G>T	ENSP00000263321.4:p.Gly346Val
NM_000372.4:c.1037G>T	NP_000363.1:p.Gly346Val
XM_011542970.1:c.1037G>T	XP_011541272.1:p.Gly346Val
XM_011542970.2:c.1037G>T	XP_011541272.1:p.Gly346Val
XR_001748321.1:n.2717+43637C>A
XR_001748322.1:n.2732+43637C>A
NM_000372.5:c.1037G>T MANE Select	NP_000363.1:p.Gly346Val