Canonical Allele Identifier: CA227488

Gene: TYR

Linked Data

• ClinVar Variation Id: 99526
• ClinVar RCV Id: RCV000085888 ; RCV000500289 ; RCV002505019 ; RCV003460772
• dbSNP Id: rs61754382
• ExAC: 11:88960990 G / A
• gnomAD v2: 11-88960990-G-A
• gnomAD v4: 11-89227822-G-A
• MyVariant Identifiers: chr11:g.88960990G>A (hg19) ; chr11:g.89227822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89227822G>A , CM000673.2:g.89227822G>A	GRCh38
NC_000011.9:g.88960990G>A , CM000673.1:g.88960990G>A	GRCh37
NC_000011.8:g.88600638G>A	NCBI36
NG_008748.1:g.54951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1037-1G>A MANE Select	ENSP00000263321.4:n.1037-1G>A
ENST00000263321.5:c.1037-1G>A	ENSP00000263321.4:n.1037-1G>A
NM_000372.4:c.1037-1G>A	NP_000363.1:n.1037-1G>A
XM_011542970.1:c.1037-1G>A	XP_011541272.1:n.1037-1G>A
XM_011542970.2:c.1037-1G>A	XP_011541272.1:n.1037-1G>A
XR_001748321.1:n.2717+43638C>T
XR_001748322.1:n.2732+43638C>T
NM_000372.5:c.1037-1G>A MANE Select	NP_000363.1:n.1037-1G>A