Canonical Allele Identifier: CA304066600

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2083318
• ClinVar RCV Id: RCV003002438
• dbSNP Id: rs947335888
• MyVariant Identifiers: chr19:g.1399830del (hg19) ; chr19:g.1399831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399832del , CM000681.2:g.1399832del	GRCh38
NC_000019.9:g.1399831del , CM000681.1:g.1399831del	GRCh37
NC_000019.8:g.1350831del	NCBI36
NG_009785.1:g.6723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.289del MANE Select	ENSP00000252288.1:p.Gln97SerfsTer17
ENST00000447102.8:c.289del	ENSP00000403536.2:p.Gln97SerfsTer17
ENST00000640762.1:c.220del	ENSP00000492031.1:p.Gln74SerfsTer17
ENST00000252288.6:c.289del	ENSP00000252288.1:p.Gln97SerfsTer17
ENST00000447102.7:c.289del	ENSP00000403536.2:p.Gln97SerfsTer17
NM_000156.5:c.289del	NP_000147.1:p.Gln97SerfsTer17
NM_138924.2:c.289del	NP_620279.1:p.Gln97SerfsTer17
NM_000156.6:c.289del MANE Select	NP_000147.1:p.Gln97SerfsTer17
NM_138924.3:c.289del	NP_620279.1:p.Gln97SerfsTer17