Canonical Allele Identifier: CA9043741

Gene: GAMT

Linked Data

• ClinVar Variation Id: 390894
• ClinVar RCV Id: RCV001275204 ; RCV000655368 ; RCV001721430
• dbSNP Id: rs148838075
• ExAC: 19:1399805 C / T
• gnomAD v2: 19-1399805-C-T
• gnomAD v3: 19-1399806-C-T
• gnomAD v4: 19-1399806-C-T
• MyVariant Identifiers: chr19:g.1399805C>T (hg19) ; chr19:g.1399806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399806C>T , CM000681.2:g.1399806C>T	GRCh38
NC_000019.9:g.1399805C>T , CM000681.1:g.1399805C>T	GRCh37
NC_000019.8:g.1350805C>T	NCBI36
NG_009785.1:g.6748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.314G>A MANE Select	ENSP00000252288.1:p.Arg105Gln
ENST00000447102.8:c.314G>A	ENSP00000403536.2:p.Arg105Gln
ENST00000640762.1:c.245G>A	ENSP00000492031.1:p.Arg82Gln
ENST00000252288.6:c.314G>A	ENSP00000252288.1:p.Arg105Gln
ENST00000447102.7:c.314G>A	ENSP00000403536.2:p.Arg105Gln
NM_000156.5:c.314G>A	NP_000147.1:p.Arg105Gln
NM_138924.2:c.314G>A	NP_620279.1:p.Arg105Gln
NM_000156.6:c.314G>A MANE Select	NP_000147.1:p.Arg105Gln
NM_138924.3:c.314G>A	NP_620279.1:p.Arg105Gln