Canonical Allele Identifier: CA382035129

Gene: TYR

Linked Data

• gnomAD v4: 11-89178638-G-A
• MyVariant Identifiers: chr11:g.88911806G>A (hg19) ; chr11:g.89178638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178638G>A , CM000673.2:g.89178638G>A	GRCh38
NC_000011.9:g.88911806G>A , CM000673.1:g.88911806G>A	GRCh37
NC_000011.8:g.88551454G>A	NCBI36
NG_008748.1:g.5767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.685G>A MANE Select	ENSP00000263321.4:p.Glu229Lys
ENST00000263321.5:c.685G>A	ENSP00000263321.4:p.Glu229Lys
ENST00000526139.1:n.746G>A
NM_000372.4:c.685G>A	NP_000363.1:p.Glu229Lys
XM_011542970.1:c.685G>A	XP_011541272.1:p.Glu229Lys
XM_011542970.2:c.685G>A	XP_011541272.1:p.Glu229Lys
XR_001748321.1:n.2718-65105C>T
XR_001748322.1:n.2733-65105C>T
NM_000372.5:c.685G>A MANE Select	NP_000363.1:p.Glu229Lys