Canonical Allele Identifier: CA382078141

Gene: TYR

Linked Data

• ClinVar Variation Id: 2133741
• ClinVar RCV Id: RCV003041085
• MyVariant Identifiers: chr11:g.89018096A>G (hg19) ; chr11:g.89284928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284928A>G , CM000673.2:g.89284928A>G	GRCh38
NC_000011.9:g.89018096A>G , CM000673.1:g.89018096A>G	GRCh37
NC_000011.8:g.88657744A>G	NCBI36
NG_008748.1:g.112057A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1340A>G MANE Select	ENSP00000263321.4:p.Tyr447Cys
ENST00000263321.5:c.1340A>G	ENSP00000263321.4:p.Tyr447Cys
ENST00000528243.1:n.338A>G
NM_000372.4:c.1340A>G	NP_000363.1:p.Tyr447Cys
XM_011542970.1:c.1340A>G	XP_011541272.1:p.Tyr447Cys
XM_011542970.2:c.1340A>G	XP_011541272.1:p.Tyr447Cys
XR_001748321.1:n.2456+1106T>C
XR_001748322.1:n.2457+1106T>C
NM_000372.5:c.1340A>G MANE Select	NP_000363.1:p.Tyr447Cys