Canonical Allele Identifier: CA227573

Gene: TYR

Linked Data

• ClinVar Variation Id: 99572
• ClinVar RCV Id: RCV000085957 ; RCV000502990 ; RCV003460783
• dbSNP Id: rs61754362
• ExAC: 11:88911734 C / A
• gnomAD v2: 11-88911734-C-A
• gnomAD v3: 11-89178566-C-A
• gnomAD v4: 11-89178566-C-A
• MyVariant Identifiers: chr11:g.88911734C>A (hg19) ; chr11:g.89178566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178566C>A , CM000673.2:g.89178566C>A	GRCh38
NC_000011.9:g.88911734C>A , CM000673.1:g.88911734C>A	GRCh37
NC_000011.8:g.88551382C>A	NCBI36
NG_008748.1:g.5695C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.613C>A MANE Select	ENSP00000263321.4:p.Pro205Thr
ENST00000263321.5:c.613C>A	ENSP00000263321.4:p.Pro205Thr
ENST00000526139.1:n.674C>A
NM_000372.4:c.613C>A	NP_000363.1:p.Pro205Thr
XM_011542970.1:c.613C>A	XP_011541272.1:p.Pro205Thr
XM_011542970.2:c.613C>A	XP_011541272.1:p.Pro205Thr
XR_001748321.1:n.2718-65033G>T
XR_001748322.1:n.2733-65033G>T
NM_000372.5:c.613C>A MANE Select	NP_000363.1:p.Pro205Thr