Canonical Allele Identifier: CA2813256004

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399002dup , CM000681.2:g.1399002dup	GRCh38
NC_000019.9:g.1399001dup , CM000681.1:g.1399001dup	GRCh37
NC_000019.8:g.1350001dup	NCBI36
NG_009785.1:g.7553dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.485dup MANE Select	ENSP00000252288.1:p.Val165ArgfsTer26
ENST00000447102.8:c.485dup	ENSP00000403536.2:p.Val165ArgfsTer26
ENST00000591788.3:c.168dup
ENST00000640164.1:n.318dup
ENST00000640762.1:c.416dup	ENSP00000492031.1:p.Val142ArgfsTer26
ENST00000252288.6:c.485dup	ENSP00000252288.1:p.Val165ArgfsTer26
ENST00000447102.7:c.485dup	ENSP00000403536.2:p.Val165ArgfsTer26
ENST00000591788.2:c.170dup	ENSP00000466341.2:p.Val60ArgfsTer26
NM_000156.5:c.485dup	NP_000147.1:p.Val165ArgfsTer26
NM_138924.2:c.485dup	NP_620279.1:p.Val165ArgfsTer26
NM_000156.6:c.485dup MANE Select	NP_000147.1:p.Val165ArgfsTer26
NM_138924.3:c.485dup	NP_620279.1:p.Val165ArgfsTer26