Canonical Allele Identifier: CA382035307

Gene: TYR

Linked Data

• gnomAD v4: 11-89178702-A-T
• MyVariant Identifiers: chr11:g.88911870A>T (hg19) ; chr11:g.89178702A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178702A>T , CM000673.2:g.89178702A>T	GRCh38
NC_000011.9:g.88911870A>T , CM000673.1:g.88911870A>T	GRCh37
NC_000011.8:g.88551518A>T	NCBI36
NG_008748.1:g.5831A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.749A>T MANE Select	ENSP00000263321.4:p.Glu250Val
ENST00000263321.5:c.749A>T	ENSP00000263321.4:p.Glu250Val
ENST00000526139.1:n.810A>T
NM_000372.4:c.749A>T	NP_000363.1:p.Glu250Val
XM_011542970.1:c.749A>T	XP_011541272.1:p.Glu250Val
XM_011542970.2:c.749A>T	XP_011541272.1:p.Glu250Val
XR_001748321.1:n.2718-65169T>A
XR_001748322.1:n.2733-65169T>A
NM_000372.5:c.749A>T MANE Select	NP_000363.1:p.Glu250Val