Canonical Allele Identifier: CA2695223146

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1398896_1398899dup , CM000681.2:g.1398896_1398899dup	GRCh38
NC_000019.9:g.1398895_1398898dup , CM000681.1:g.1398895_1398898dup	GRCh37
NC_000019.8:g.1349895_1349898dup	NCBI36
NG_009785.1:g.7655_7658dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.570+17_570+20dup MANE Select	ENSP00000252288.1:n.570+17_570+20dup
ENST00000447102.8:c.587_590dup	ENSP00000403536.2:p.His198SerfsTer8
ENST00000591788.3:c.253+17_253+20dup
ENST00000640164.1:n.403+17_403+20dup
ENST00000640762.1:c.501+17_501+20dup	ENSP00000492031.1:n.501+17_501+20dup
ENST00000252288.6:c.570+17_570+20dup	ENSP00000252288.1:n.570+17_570+20dup
ENST00000447102.7:c.587_590dup	ENSP00000403536.2:p.His198SerfsTer8
ENST00000591788.2:c.255+17_255+20dup	ENSP00000466341.2:n.255+17_255+20dup
NM_000156.5:c.570+17_570+20dup	NP_000147.1:n.570+17_570+20dup
NM_138924.2:c.587_590dup	NP_620279.1:p.His198SerfsTer8
NM_000156.6:c.570+17_570+20dup MANE Select	NP_000147.1:n.570+17_570+20dup
NM_138924.3:c.587_590dup	NP_620279.1:p.His198SerfsTer8