Canonical Allele Identifier: CA2582641850

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401260-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401261dup , CM000681.2:g.1401261dup	GRCh38
NC_000019.9:g.1401260dup , CM000681.1:g.1401260dup	GRCh37
NC_000019.8:g.1352260dup	NCBI36
NG_009785.1:g.5293dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.181+35dup MANE Select	ENSP00000252288.1:n.181+35dup
ENST00000447102.8:c.181+35dup	ENSP00000403536.2:n.181+35dup
ENST00000640762.1:c.112+104dup	ENSP00000492031.1:n.112+104dup
ENST00000252288.6:c.181+35dup	ENSP00000252288.1:n.181+35dup
ENST00000447102.7:c.181+35dup	ENSP00000403536.2:n.181+35dup
NM_000156.5:c.181+35dup	NP_000147.1:n.181+35dup
NM_138924.2:c.181+35dup	NP_620279.1:n.181+35dup
NM_000156.6:c.181+35dup MANE Select	NP_000147.1:n.181+35dup
NM_138924.3:c.181+35dup	NP_620279.1:n.181+35dup