Canonical Allele Identifier: CA382077898

Gene: TYR

Linked Data

• dbSNP Id: rs1296165748
• gnomAD v2: 11-89017981-G-A
• gnomAD v4: 11-89284813-G-A
• MyVariant Identifiers: chr11:g.89017981G>A (hg19) ; chr11:g.89284813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284813G>A , CM000673.2:g.89284813G>A	GRCh38
NC_000011.9:g.89017981G>A , CM000673.1:g.89017981G>A	GRCh37
NC_000011.8:g.88657629G>A	NCBI36
NG_008748.1:g.111942G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1225G>A MANE Select	ENSP00000263321.4:p.Glu409Lys
ENST00000263321.5:c.1225G>A	ENSP00000263321.4:p.Glu409Lys
ENST00000528243.1:n.223G>A
NM_000372.4:c.1225G>A	NP_000363.1:p.Glu409Lys
XM_011542970.1:c.1225G>A	XP_011541272.1:p.Glu409Lys
XM_011542970.2:c.1225G>A	XP_011541272.1:p.Glu409Lys
XR_001748321.1:n.2456+1221C>T
XR_001748322.1:n.2457+1221C>T
NM_000372.5:c.1225G>A MANE Select	NP_000363.1:p.Glu409Lys