Canonical Allele Identifier: CA2499225406

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1184466
• ClinVar RCV Id: RCV001542501
• dbSNP Id: rs2144638078

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399806_1399807insCA , CM000681.2:g.1399806_1399807insCA	GRCh38
NC_000019.9:g.1399805_1399806insCA , CM000681.1:g.1399805_1399806insCA	GRCh37
NC_000019.8:g.1350805_1350806insCA	NCBI36
NG_009785.1:g.6747_6748insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.313_314insTG MANE Select	ENSP00000252288.1:p.Arg105LeufsTer10
ENST00000447102.8:c.313_314insTG	ENSP00000403536.2:p.Arg105LeufsTer10
ENST00000640762.1:c.244_245insTG	ENSP00000492031.1:p.Arg82LeufsTer10
ENST00000252288.6:c.313_314insTG	ENSP00000252288.1:p.Arg105LeufsTer10
ENST00000447102.7:c.313_314insTG	ENSP00000403536.2:p.Arg105LeufsTer10
NM_000156.5:c.313_314insTG	NP_000147.1:p.Arg105LeufsTer10
NM_138924.2:c.313_314insTG	NP_620279.1:p.Arg105LeufsTer10
NM_000156.6:c.313_314insTG MANE Select	NP_000147.1:p.Arg105LeufsTer10
NM_138924.3:c.313_314insTG	NP_620279.1:p.Arg105LeufsTer10