Canonical Allele Identifier: CA1139666168

Gene: GAMT

Linked Data

• ClinVar Variation Id: 982789
• ClinVar RCV Id: RCV001262463 ; RCV003746586
• dbSNP Id: rs2082618262
• gnomAD v4: 19-1399144-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399146dup , CM000681.2:g.1399146dup	GRCh38
NC_000019.9:g.1399145dup , CM000681.1:g.1399145dup	GRCh37
NC_000019.8:g.1350145dup	NCBI36
NG_009785.1:g.7409dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.442dup MANE Select	ENSP00000252288.1:p.Gln148ProfsTer?
ENST00000447102.8:c.442dup	ENSP00000403536.2:p.Gln148ProfsTer?
ENST00000591788.3:c.125dup
ENST00000640164.1:n.275dup
ENST00000640762.1:c.373dup	ENSP00000492031.1:p.Gln125ProfsTer?
ENST00000252288.6:c.442dup	ENSP00000252288.1:p.Gln148ProfsTer?
ENST00000447102.7:c.442dup	ENSP00000403536.2:p.Gln148ProfsTer?
ENST00000591788.2:c.127dup	ENSP00000466341.2:p.Gln43ProfsTer?
NM_000156.5:c.442dup	NP_000147.1:p.Gln148ProfsTer?
NM_138924.2:c.442dup	NP_620279.1:p.Gln148ProfsTer?
NM_000156.6:c.442dup MANE Select	NP_000147.1:p.Gln148ProfsTer?
NM_138924.3:c.442dup	NP_620279.1:p.Gln148ProfsTer?