Canonical Allele Identifier: CA2582641072

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399053-A-AGGACGGAGGTGGGGGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399056_1399073dup , CM000681.2:g.1399056_1399073dup	GRCh38
NC_000019.9:g.1399055_1399072dup , CM000681.1:g.1399055_1399072dup	GRCh37
NC_000019.8:g.1350055_1350072dup	NCBI36
NG_009785.1:g.7483_7500dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.460-45_460-28dup MANE Select	ENSP00000252288.1:n.460-45_460-28dup
ENST00000447102.8:c.460-45_460-28dup	ENSP00000403536.2:n.460-45_460-28dup
ENST00000591788.3:c.143-45_143-28dup
ENST00000640164.1:n.293-45_293-28dup
ENST00000640762.1:c.391-45_391-28dup	ENSP00000492031.1:n.391-45_391-28dup
ENST00000252288.6:c.460-45_460-28dup	ENSP00000252288.1:n.460-45_460-28dup
ENST00000447102.7:c.460-45_460-28dup	ENSP00000403536.2:n.460-45_460-28dup
ENST00000591788.2:c.145-45_145-28dup	ENSP00000466341.2:n.145-45_145-28dup
NM_000156.5:c.460-45_460-28dup	NP_000147.1:n.460-45_460-28dup
NM_138924.2:c.460-45_460-28dup	NP_620279.1:n.460-45_460-28dup
NM_000156.6:c.460-45_460-28dup MANE Select	NP_000147.1:n.460-45_460-28dup
NM_138924.3:c.460-45_460-28dup	NP_620279.1:n.460-45_460-28dup