Canonical Allele Identifier: CA2582642005

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401549-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401554dup , CM000681.2:g.1401554dup	GRCh38
NC_000019.9:g.1401553dup , CM000681.1:g.1401553dup	GRCh37
NC_000019.8:g.1352553dup	NCBI36
NG_009785.1:g.5004dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447102.8:c.-74dup	ENSP00000403536.2:n.-74dup
ENST00000447102.7:c.-74dup	ENSP00000403536.2:n.-74dup
NM_000156.5:c.-74dup	NP_000147.1:n.-74dup
NM_138924.2:c.-74dup	NP_620279.1:n.-74dup