Canonical Allele Identifier: CA10652268

Gene: GAMT

Linked Data

• ClinVar Variation Id: 328345
• ClinVar RCV Id: RCV000304781 ; RCV000343350 ; RCV000390864 ; RCV001672552
• dbSNP Id: rs659460
• gnomAD v2: 19-1397207-A-G
• gnomAD v3: 19-1397208-A-G
• gnomAD v4: 19-1397208-A-G
• MyVariant Identifiers: chr19:g.1397207A>G (hg19) ; chr19:g.1397208A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1397208A>G , CM000681.2:g.1397208A>G	GRCh38
NC_000019.9:g.1397207A>G , CM000681.1:g.1397207A>G	GRCh37
NC_000019.8:g.1348207A>G	NCBI36
NG_008283.1:g.18325A>G
NG_009785.1:g.9346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.*151T>C MANE Select	ENSP00000252288.1:n.*151T>C
ENST00000252288.6:c.*151T>C	ENSP00000252288.1:n.*151T>C
NM_000156.5:c.*151T>C	NP_000147.1:n.*151T>C
NM_000156.6:c.*151T>C MANE Select	NP_000147.1:n.*151T>C