Canonical Allele Identifier: CA2695198107

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2675839
• ClinVar RCV Id: RCV003461655 ; RCV003586425

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401427del , CM000681.2:g.1401427del	GRCh38
NC_000019.9:g.1401426del , CM000681.1:g.1401426del	GRCh37
NC_000019.8:g.1352426del	NCBI36
NG_009785.1:g.5127del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.50del MANE Select	ENSP00000252288.1:p.Ser17ThrfsTer25
ENST00000447102.8:c.50del	ENSP00000403536.2:p.Ser17ThrfsTer25
ENST00000640762.1:c.50del	ENSP00000492031.1:p.Ser17ThrfsTer?
ENST00000252288.6:c.50del	ENSP00000252288.1:p.Ser17ThrfsTer25
ENST00000447102.7:c.50del	ENSP00000403536.2:p.Ser17ThrfsTer25
NM_000156.5:c.50del	NP_000147.1:p.Ser17ThrfsTer25
NM_138924.2:c.50del	NP_620279.1:p.Ser17ThrfsTer25
NM_000156.6:c.50del MANE Select	NP_000147.1:p.Ser17ThrfsTer25
NM_138924.3:c.50del	NP_620279.1:p.Ser17ThrfsTer25