Canonical Allele Identifier: CA382034292

Gene: TYR

Linked Data

• gnomAD v4: 11-89178342-A-G
• MyVariant Identifiers: chr11:g.88911510A>G (hg19) ; chr11:g.89178342A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178342A>G , CM000673.2:g.89178342A>G	GRCh38
NC_000011.9:g.88911510A>G , CM000673.1:g.88911510A>G	GRCh37
NC_000011.8:g.88551158A>G	NCBI36
NG_008748.1:g.5471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.389A>G MANE Select	ENSP00000263321.4:p.Glu130Gly
ENST00000263321.5:c.389A>G	ENSP00000263321.4:p.Glu130Gly
ENST00000526139.1:n.450A>G
NM_000372.4:c.389A>G	NP_000363.1:p.Glu130Gly
XM_011542970.1:c.389A>G	XP_011541272.1:p.Glu130Gly
XM_011542970.2:c.389A>G	XP_011541272.1:p.Glu130Gly
XR_001748321.1:n.2718-64809T>C
XR_001748322.1:n.2733-64809T>C
NM_000372.5:c.389A>G MANE Select	NP_000363.1:p.Glu130Gly