Canonical Allele Identifier: CA2840515344

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398874dup , CM000681.2:g.1398874dup	GRCh38
NC_000019.9:g.1398873dup , CM000681.1:g.1398873dup	GRCh37
NC_000019.8:g.1349873dup	NCBI36
NG_009785.1:g.7681dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.570+43dup MANE Select	ENSP00000252288.1:n.570+43dup
ENST00000447102.8:c.613dup	ENSP00000403536.2:p.Leu205ProfsTer?
ENST00000591788.3:c.253+43dup
ENST00000640164.1:n.403+43dup
ENST00000640762.1:c.501+43dup	ENSP00000492031.1:n.501+43dup
ENST00000252288.6:c.570+43dup	ENSP00000252288.1:n.570+43dup
ENST00000447102.7:c.613dup	ENSP00000403536.2:p.Leu205ProfsTer?
ENST00000591788.2:c.255+43dup	ENSP00000466341.2:n.255+43dup
NM_000156.5:c.570+43dup	NP_000147.1:n.570+43dup
NM_138924.2:c.613dup	NP_620279.1:p.Leu205ProfsTer?
NM_000156.6:c.570+43dup MANE Select	NP_000147.1:n.570+43dup
NM_138924.3:c.613dup	NP_620279.1:p.Leu205ProfsTer?