Canonical Allele Identifier: CA2317699441

Gene: GAMT

Linked Data

• dbSNP Id: rs2082622157

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399706dup , CM000681.2:g.1399706dup	GRCh38
NC_000019.9:g.1399705dup , CM000681.1:g.1399705dup	GRCh37
NC_000019.8:g.1350705dup	NCBI36
NG_009785.1:g.6848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+87dup MANE Select	ENSP00000252288.1:n.327+87dup
ENST00000447102.8:c.327+87dup	ENSP00000403536.2:n.327+87dup
ENST00000591788.3:c.10+87dup
ENST00000640164.1:n.42dup
ENST00000640762.1:c.258+87dup	ENSP00000492031.1:n.258+87dup
ENST00000252288.6:c.327+87dup	ENSP00000252288.1:n.327+87dup
ENST00000447102.7:c.327+87dup	ENSP00000403536.2:n.327+87dup
ENST00000591788.2:c.12+87dup	ENSP00000466341.2:n.12+87dup
NM_000156.5:c.327+87dup	NP_000147.1:n.327+87dup
NM_138924.2:c.327+87dup	NP_620279.1:n.327+87dup
NM_000156.6:c.327+87dup MANE Select	NP_000147.1:n.327+87dup
NM_138924.3:c.327+87dup	NP_620279.1:n.327+87dup