Canonical Allele Identifier: CA227574

Gene: TYR

Linked Data

• ClinVar Variation Id: 3791
• ClinVar RCV Id: RCV000003994 ; RCV000085958 ; RCV003460419
• dbSNP Id: rs28940880
• ExAC: 11:88911737 G / A
• gnomAD v2: 11-88911737-G-A
• gnomAD v4: 11-89178569-G-A
• MyVariant Identifiers: chr11:g.88911737G>A (hg19) ; chr11:g.89178569G>A (hg38)
• PubMed: PMID:1943686

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178569G>A , CM000673.2:g.89178569G>A	GRCh38
NC_000011.9:g.88911737G>A , CM000673.1:g.88911737G>A	GRCh37
NC_000011.8:g.88551385G>A	NCBI36
NG_008748.1:g.5698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.616G>A MANE Select	ENSP00000263321.4:p.Ala206Thr
ENST00000263321.5:c.616G>A	ENSP00000263321.4:p.Ala206Thr
ENST00000526139.1:n.677G>A
NM_000372.4:c.616G>A	NP_000363.1:p.Ala206Thr
XM_011542970.1:c.616G>A	XP_011541272.1:p.Ala206Thr
XM_011542970.2:c.616G>A	XP_011541272.1:p.Ala206Thr
XR_001748321.1:n.2718-65036C>T
XR_001748322.1:n.2733-65036C>T
NM_000372.5:c.616G>A MANE Select	NP_000363.1:p.Ala206Thr