Canonical Allele Identifier: CA940690293

Gene: TYR

Linked Data

• dbSNP Id: rs1944766039
• gnomAD v3: 11-89284954-G-GGTAAA
• gnomAD v4: 11-89284954-G-GGTAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284957_89284961dup , CM000673.2:g.89284957_89284961dup	GRCh38
NC_000011.9:g.89018125_89018129dup , CM000673.1:g.89018125_89018129dup	GRCh37
NC_000011.8:g.88657773_88657777dup	NCBI36
NG_008748.1:g.112086_112090dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1366+3_1366+7dup MANE Select	ENSP00000263321.4:n.1366+3_1366+7dup
ENST00000263321.5:c.1366+3_1366+7dup	ENSP00000263321.4:n.1366+3_1366+7dup
ENST00000528243.1:n.364+3_364+7dup
NM_000372.4:c.1366+3_1366+7dup	NP_000363.1:n.1366+3_1366+7dup
XM_011542970.1:c.1366+3_1366+7dup	XP_011541272.1:n.1366+3_1366+7dup
XM_011542970.2:c.1366+3_1366+7dup	XP_011541272.1:n.1366+3_1366+7dup
XR_001748321.1:n.2456+1075_2456+1079dup
XR_001748322.1:n.2457+1075_2457+1079dup
NM_000372.5:c.1366+3_1366+7dup MANE Select	NP_000363.1:n.1366+3_1366+7dup