Canonical Allele Identifier: CA227580

Gene: TYR

Linked Data

• ClinVar Variation Id: 99575
• ClinVar RCV Id: RCV000085964 ; RCV000194283 ; RCV000778346 ; RCV003467008
• dbSNP Id: rs61754365
• ExAC: 11:88911771 G / A
• gnomAD v2: 11-88911771-G-A
• gnomAD v3: 11-89178603-G-A
• gnomAD v4: 11-89178603-G-A
• MyVariant Identifiers: chr11:g.88911771G>A (hg19) ; chr11:g.89178603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178603G>A , CM000673.2:g.89178603G>A	GRCh38
NC_000011.9:g.88911771G>A , CM000673.1:g.88911771G>A	GRCh37
NC_000011.8:g.88551419G>A	NCBI36
NG_008748.1:g.5732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.650G>A MANE Select	ENSP00000263321.4:p.Arg217Gln
ENST00000263321.5:c.650G>A	ENSP00000263321.4:p.Arg217Gln
ENST00000526139.1:n.711G>A
NM_000372.4:c.650G>A	NP_000363.1:p.Arg217Gln
XM_011542970.1:c.650G>A	XP_011541272.1:p.Arg217Gln
XM_011542970.2:c.650G>A	XP_011541272.1:p.Arg217Gln
XR_001748321.1:n.2718-65070C>T
XR_001748322.1:n.2733-65070C>T
NM_000372.5:c.650G>A MANE Select	NP_000363.1:p.Arg217Gln