Canonical Allele Identifier: CA2813256133

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401422_1401423insA , CM000681.2:g.1401422_1401423insA	GRCh38
NC_000019.9:g.1401421_1401422insA , CM000681.1:g.1401421_1401422insA	GRCh37
NC_000019.8:g.1352421_1352422insA	NCBI36
NG_009785.1:g.5131_5132insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.54_55insT MANE Select	ENSP00000252288.1:p.Ala19CysfsTer?
ENST00000447102.8:c.54_55insT	ENSP00000403536.2:p.Ala19CysfsTer?
ENST00000640762.1:c.54_55insT	ENSP00000492031.1:p.Ala19CysfsTer?
ENST00000252288.6:c.54_55insT	ENSP00000252288.1:p.Ala19CysfsTer?
ENST00000447102.7:c.54_55insT	ENSP00000403536.2:p.Ala19CysfsTer?
NM_000156.5:c.54_55insT	NP_000147.1:p.Ala19CysfsTer?
NM_138924.2:c.54_55insT	NP_620279.1:p.Ala19CysfsTer?
NM_000156.6:c.54_55insT MANE Select	NP_000147.1:p.Ala19CysfsTer?
NM_138924.3:c.54_55insT	NP_620279.1:p.Ala19CysfsTer?