Canonical Allele Identifier: CA6221382

Gene: TYR

Linked Data

• ClinVar Variation Id: 882340
• ClinVar RCV Id: RCV001111955 ; RCV001856484
• dbSNP Id: rs772173320
• ExAC: 11:89017970 G / A
• gnomAD v2: 11-89017970-G-A
• gnomAD v3: 11-89284802-G-A
• gnomAD v4: 11-89284802-G-A
• MyVariant Identifiers: chr11:g.89017970G>A (hg19) ; chr11:g.89284802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284802G>A , CM000673.2:g.89284802G>A	GRCh38
NC_000011.9:g.89017970G>A , CM000673.1:g.89017970G>A	GRCh37
NC_000011.8:g.88657618G>A	NCBI36
NG_008748.1:g.111931G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1214G>A MANE Select	ENSP00000263321.4:p.Arg405His
ENST00000263321.5:c.1214G>A	ENSP00000263321.4:p.Arg405His
ENST00000528243.1:n.212G>A
NM_000372.4:c.1214G>A	NP_000363.1:p.Arg405His
XM_011542970.1:c.1214G>A	XP_011541272.1:p.Arg405His
XM_011542970.2:c.1214G>A	XP_011541272.1:p.Arg405His
XR_001748321.1:n.2456+1232C>T
XR_001748322.1:n.2457+1232C>T
NM_000372.5:c.1214G>A MANE Select	NP_000363.1:p.Arg405His