Canonical Allele Identifier: CA402996396

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1960098
• ClinVar RCV Id: RCV002706305
• dbSNP Id: rs1283430129
• gnomAD v3: 19-1399842-T-A
• gnomAD v4: 19-1399842-T-A
• MyVariant Identifiers: chr19:g.1399841T>A (hg19) ; chr19:g.1399842T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399842T>A , CM000681.2:g.1399842T>A	GRCh38
NC_000019.9:g.1399841T>A , CM000681.1:g.1399841T>A	GRCh37
NC_000019.8:g.1350841T>A	NCBI36
NG_009785.1:g.6712A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.278A>T MANE Select	ENSP00000252288.1:p.Asp93Val
ENST00000447102.8:c.278A>T	ENSP00000403536.2:p.Asp93Val
ENST00000640762.1:c.209A>T	ENSP00000492031.1:p.Asp70Val
ENST00000252288.6:c.278A>T	ENSP00000252288.1:p.Asp93Val
ENST00000447102.7:c.278A>T	ENSP00000403536.2:p.Asp93Val
NM_000156.5:c.278A>T	NP_000147.1:p.Asp93Val
NM_138924.2:c.278A>T	NP_620279.1:p.Asp93Val
NM_000156.6:c.278A>T MANE Select	NP_000147.1:p.Asp93Val
NM_138924.3:c.278A>T	NP_620279.1:p.Asp93Val