Canonical Allele Identifier: CA992511466

Gene: GAMT

Linked Data

• dbSNP Id: rs2082621954
• gnomAD v3: 19-1399678-C-CGA
• gnomAD v4: 19-1399678-C-CGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399685_1399686dup , CM000681.2:g.1399685_1399686dup	GRCh38
NC_000019.9:g.1399684_1399685dup , CM000681.1:g.1399684_1399685dup	GRCh37
NC_000019.8:g.1350684_1350685dup	NCBI36
NG_009785.1:g.6874_6875dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.328-93_328-92dup MANE Select	ENSP00000252288.1:n.328-93_328-92dup
ENST00000447102.8:c.328-93_328-92dup	ENSP00000403536.2:n.328-93_328-92dup
ENST00000591788.3:c.11-93_11-92dup
ENST00000640164.1:n.68_69dup
ENST00000640762.1:c.259-93_259-92dup	ENSP00000492031.1:n.259-93_259-92dup
ENST00000252288.6:c.328-93_328-92dup	ENSP00000252288.1:n.328-93_328-92dup
ENST00000447102.7:c.328-93_328-92dup	ENSP00000403536.2:n.328-93_328-92dup
ENST00000591788.2:c.13-93_13-92dup	ENSP00000466341.2:n.13-93_13-92dup
NM_000156.5:c.328-93_328-92dup	NP_000147.1:n.328-93_328-92dup
NM_138924.2:c.328-93_328-92dup	NP_620279.1:n.328-93_328-92dup
NM_000156.6:c.328-93_328-92dup MANE Select	NP_000147.1:n.328-93_328-92dup
NM_138924.3:c.328-93_328-92dup	NP_620279.1:n.328-93_328-92dup