Canonical Allele Identifier: CA382077900

Gene: TYR

Linked Data

• ClinVar Variation Id: 2844109
• ClinVar RCV Id: RCV003716676
• MyVariant Identifiers: chr11:g.89017981G>T (hg19) ; chr11:g.89284813G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1225G>T MANE Select	ENSP00000263321.4:p.Glu409Ter
ENST00000263321.5:c.1225G>T	ENSP00000263321.4:p.Glu409Ter
ENST00000528243.1:n.223G>T
NM_000372.4:c.1225G>T	NP_000363.1:p.Glu409Ter
XM_011542970.1:c.1225G>T	XP_011541272.1:p.Glu409Ter
XM_011542970.2:c.1225G>T	XP_011541272.1:p.Glu409Ter
XR_001748321.1:n.2456+1221C>A
XR_001748322.1:n.2457+1221C>A
NM_000372.5:c.1225G>T MANE Select	NP_000363.1:p.Glu409Ter