Canonical Allele Identifier: CA9043638

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2060933
• ClinVar RCV Id: RCV002948105 ; RCV003367914
• dbSNP Id: rs781370953
• ExAC: 19:1399019 C / T
• gnomAD v2: 19-1399019-C-T
• gnomAD v3: 19-1399020-C-T
• gnomAD v4: 19-1399020-C-T
• COSMIC: COSM991753 ; COSM991754
• MyVariant Identifiers: chr19:g.1399019C>T (hg19) ; chr19:g.1399020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399020C>T , CM000681.2:g.1399020C>T	GRCh38
NC_000019.9:g.1399019C>T , CM000681.1:g.1399019C>T	GRCh37
NC_000019.8:g.1350019C>T	NCBI36
NG_009785.1:g.7534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.466G>A MANE Select	ENSP00000252288.1:p.Ala156Thr
ENST00000447102.8:c.466G>A	ENSP00000403536.2:p.Ala156Thr
ENST00000591788.3:c.149G>A
ENST00000640164.1:n.299G>A
ENST00000640762.1:c.397G>A	ENSP00000492031.1:p.Ala133Thr
ENST00000252288.6:c.466G>A	ENSP00000252288.1:p.Ala156Thr
ENST00000447102.7:c.466G>A	ENSP00000403536.2:p.Ala156Thr
ENST00000591788.2:c.151G>A	ENSP00000466341.2:p.Ala51Thr
NM_000156.5:c.466G>A	NP_000147.1:p.Ala156Thr
NM_138924.2:c.466G>A	NP_620279.1:p.Ala156Thr
NM_000156.6:c.466G>A MANE Select	NP_000147.1:p.Ala156Thr
NM_138924.3:c.466G>A	NP_620279.1:p.Ala156Thr