Canonical Allele Identifier: CA2582641121

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399254-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399255dup , CM000681.2:g.1399255dup	GRCh38
NC_000019.9:g.1399254dup , CM000681.1:g.1399254dup	GRCh37
NC_000019.8:g.1350254dup	NCBI36
NG_009785.1:g.7299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.392-60dup MANE Select	ENSP00000252288.1:n.392-60dup
ENST00000447102.8:c.392-60dup	ENSP00000403536.2:n.392-60dup
ENST00000591788.3:c.75-60dup
ENST00000640164.1:n.225-60dup
ENST00000640762.1:c.323-60dup	ENSP00000492031.1:n.323-60dup
ENST00000252288.6:c.392-60dup	ENSP00000252288.1:n.392-60dup
ENST00000447102.7:c.392-60dup	ENSP00000403536.2:n.392-60dup
ENST00000591788.2:c.77-60dup	ENSP00000466341.2:n.77-60dup
NM_000156.5:c.392-60dup	NP_000147.1:n.392-60dup
NM_138924.2:c.392-60dup	NP_620279.1:n.392-60dup
NM_000156.6:c.392-60dup MANE Select	NP_000147.1:n.392-60dup
NM_138924.3:c.392-60dup	NP_620279.1:n.392-60dup