Canonical Allele Identifier: CA227559

Gene: TYR

Linked Data

• ClinVar Variation Id: 99562
• ClinVar RCV Id: RCV000085945 ; RCV000626679 ; RCV003460780
• dbSNP Id: rs61753253
• ExAC: 11:88911446 G / A
• gnomAD v2: 11-88911446-G-A
• gnomAD v3: 11-89178278-G-A
• gnomAD v4: 11-89178278-G-A
• MyVariant Identifiers: chr11:g.88911446G>A (hg19) ; chr11:g.89178278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178278G>A , CM000673.2:g.89178278G>A	GRCh38
NC_000011.9:g.88911446G>A , CM000673.1:g.88911446G>A	GRCh37
NC_000011.8:g.88551094G>A	NCBI36
NG_008748.1:g.5407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.325G>A MANE Select	ENSP00000263321.4:p.Gly109Arg
ENST00000263321.5:c.325G>A	ENSP00000263321.4:p.Gly109Arg
ENST00000526139.1:n.386G>A
NM_000372.4:c.325G>A	NP_000363.1:p.Gly109Arg
XM_011542970.1:c.325G>A	XP_011541272.1:p.Gly109Arg
XM_011542970.2:c.325G>A	XP_011541272.1:p.Gly109Arg
XR_001748321.1:n.2718-64745C>T
XR_001748322.1:n.2733-64745C>T
NM_000372.5:c.325G>A MANE Select	NP_000363.1:p.Gly109Arg