Canonical Allele Identifier: CA2580612588

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1073500
• ClinVar RCV Id: RCV001386526 ; RCV003469721
• dbSNP Id: rs2144638048
• gnomAD v4: 19-1399794-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399800_1399801del , CM000681.2:g.1399800_1399801del	GRCh38
NC_000019.9:g.1399799_1399800del , CM000681.1:g.1399799_1399800del	GRCh37
NC_000019.8:g.1350799_1350800del	NCBI36
NG_009785.1:g.6758_6759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.324_325del MANE Select	ENSP00000252288.1:p.His108GlnfsTer18
ENST00000447102.8:c.324_325del	ENSP00000403536.2:p.His108GlnfsTer18
ENST00000591788.3:c.7_8del
ENST00000640762.1:c.255_256del	ENSP00000492031.1:p.His85GlnfsTer18
ENST00000252288.6:c.324_325del	ENSP00000252288.1:p.His108GlnfsTer18
ENST00000447102.7:c.324_325del	ENSP00000403536.2:p.His108GlnfsTer18
ENST00000591788.2:c.9_10del	ENSP00000466341.2:p.His3GlnfsTer18
NM_000156.5:c.324_325del	NP_000147.1:p.His108GlnfsTer18
NM_138924.2:c.324_325del	NP_620279.1:p.His108GlnfsTer18
NM_000156.6:c.324_325del MANE Select	NP_000147.1:p.His108GlnfsTer18
NM_138924.3:c.324_325del	NP_620279.1:p.His108GlnfsTer18