Canonical Allele Identifier: CA382078127

Gene: TYR

Linked Data

• gnomAD v4: 11-89284921-C-A
• COSMIC: COSM932893
• MyVariant Identifiers: chr11:g.89018089C>A (hg19) ; chr11:g.89284921C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284921C>A , CM000673.2:g.89284921C>A	GRCh38
NC_000011.9:g.89018089C>A , CM000673.1:g.89018089C>A	GRCh37
NC_000011.8:g.88657737C>A	NCBI36
NG_008748.1:g.112050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1333C>A MANE Select	ENSP00000263321.4:p.Leu445Met
ENST00000263321.5:c.1333C>A	ENSP00000263321.4:p.Leu445Met
ENST00000528243.1:n.331C>A
NM_000372.4:c.1333C>A	NP_000363.1:p.Leu445Met
XM_011542970.1:c.1333C>A	XP_011541272.1:p.Leu445Met
XM_011542970.2:c.1333C>A	XP_011541272.1:p.Leu445Met
XR_001748321.1:n.2456+1113G>T
XR_001748322.1:n.2457+1113G>T
NM_000372.5:c.1333C>A MANE Select	NP_000363.1:p.Leu445Met