Canonical Allele Identifier: CA314848

Gene: GAMT

Linked Data

• ClinVar Variation Id: 205602
• ClinVar RCV Id: RCV000187587
• dbSNP Id: rs796052532
• gnomAD v4: 19-1401349-T-C
• MyVariant Identifiers: chr19:g.1401348T>C (hg19) ; chr19:g.1401349T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401349T>C , CM000681.2:g.1401349T>C	GRCh38
NC_000019.9:g.1401348T>C , CM000681.1:g.1401348T>C	GRCh37
NC_000019.8:g.1352348T>C	NCBI36
NG_009785.1:g.5205A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.128A>G MANE Select	ENSP00000252288.1:p.Glu43Gly
ENST00000447102.8:c.128A>G	ENSP00000403536.2:p.Glu43Gly
ENST00000640762.1:c.112+16A>G	ENSP00000492031.1:n.112+16A>G
ENST00000252288.6:c.128A>G	ENSP00000252288.1:p.Glu43Gly
ENST00000447102.7:c.128A>G	ENSP00000403536.2:p.Glu43Gly
NM_000156.5:c.128A>G	NP_000147.1:p.Glu43Gly
NM_138924.2:c.128A>G	NP_620279.1:p.Glu43Gly
NM_000156.6:c.128A>G MANE Select	NP_000147.1:p.Glu43Gly
NM_138924.3:c.128A>G	NP_620279.1:p.Glu43Gly