Canonical Allele Identifier: CA227526

Gene: TYR

Linked Data

• ClinVar Variation Id: 3802
• ClinVar RCV Id: RCV000004006 ; RCV000085921
• dbSNP Id: rs104894318
• ExAC: 11:89018098 G / A
• gnomAD v2: 11-89018098-G-A
• gnomAD v4: 11-89284930-G-A
• MyVariant Identifiers: chr11:g.89018098G>A (hg19) ; chr11:g.89284930G>A (hg38)
• PubMed: PMID:1642278

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284930G>A , CM000673.2:g.89284930G>A	GRCh38
NC_000011.9:g.89018098G>A , CM000673.1:g.89018098G>A	GRCh37
NC_000011.8:g.88657746G>A	NCBI36
NG_008748.1:g.112059G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1342G>A MANE Select	ENSP00000263321.4:p.Asp448Asn
ENST00000263321.5:c.1342G>A	ENSP00000263321.4:p.Asp448Asn
ENST00000528243.1:n.340G>A
NM_000372.4:c.1342G>A	NP_000363.1:p.Asp448Asn
XM_011542970.1:c.1342G>A	XP_011541272.1:p.Asp448Asn
XM_011542970.2:c.1342G>A	XP_011541272.1:p.Asp448Asn
XR_001748321.1:n.2456+1104C>T
XR_001748322.1:n.2457+1104C>T
NM_000372.5:c.1342G>A MANE Select	NP_000363.1:p.Asp448Asn