Canonical Allele Identifier: CA402994675

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2089224
• ClinVar RCV Id: RCV003012042
• gnomAD v4: 19-1399007-A-C
• MyVariant Identifiers: chr19:g.1399006A>C (hg19) ; chr19:g.1399007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399007A>C , CM000681.2:g.1399007A>C	GRCh38
NC_000019.9:g.1399006A>C , CM000681.1:g.1399006A>C	GRCh37
NC_000019.8:g.1350006A>C	NCBI36
NG_009785.1:g.7547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.479T>G MANE Select	ENSP00000252288.1:p.Leu160Arg
ENST00000447102.8:c.479T>G	ENSP00000403536.2:p.Leu160Arg
ENST00000591788.3:c.162T>G
ENST00000640164.1:n.312T>G
ENST00000640762.1:c.410T>G	ENSP00000492031.1:p.Leu137Arg
ENST00000252288.6:c.479T>G	ENSP00000252288.1:p.Leu160Arg
ENST00000447102.7:c.479T>G	ENSP00000403536.2:p.Leu160Arg
ENST00000591788.2:c.164T>G	ENSP00000466341.2:p.Leu55Arg
NM_000156.5:c.479T>G	NP_000147.1:p.Leu160Arg
NM_138924.2:c.479T>G	NP_620279.1:p.Leu160Arg
NM_000156.6:c.479T>G MANE Select	NP_000147.1:p.Leu160Arg
NM_138924.3:c.479T>G	NP_620279.1:p.Leu160Arg