Canonical Allele Identifier: CA2576548658

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399178del , CM000681.2:g.1399178del	GRCh38
NC_000019.9:g.1399177del , CM000681.1:g.1399177del	GRCh37
NC_000019.8:g.1350177del	NCBI36
NG_009785.1:g.7376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.409del MANE Select	ENSP00000252288.1:p.Tyr137ThrfsTer24
ENST00000447102.8:c.409del	ENSP00000403536.2:p.Tyr137ThrfsTer24
ENST00000591788.3:c.92del
ENST00000640164.1:n.242del
ENST00000640762.1:c.340del	ENSP00000492031.1:p.Tyr114ThrfsTer24
ENST00000252288.6:c.409del	ENSP00000252288.1:p.Tyr137ThrfsTer24
ENST00000447102.7:c.409del	ENSP00000403536.2:p.Tyr137ThrfsTer24
ENST00000591788.2:c.94del	ENSP00000466341.2:p.Tyr32ThrfsTer24
NM_000156.5:c.409del	NP_000147.1:p.Tyr137ThrfsTer24
NM_138924.2:c.409del	NP_620279.1:p.Tyr137ThrfsTer24
NM_000156.6:c.409del MANE Select	NP_000147.1:p.Tyr137ThrfsTer24
NM_138924.3:c.409del	NP_620279.1:p.Tyr137ThrfsTer24