Canonical Allele Identifier: CA402995985

Gene: GAMT

Linked Data

• ClinVar Variation Id: 2715989
• ClinVar RCV Id: RCV003586928
• MyVariant Identifiers: chr19:g.1399790A>C (hg19) ; chr19:g.1399791A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399791A>C , CM000681.2:g.1399791A>C	GRCh38
NC_000019.9:g.1399790A>C , CM000681.1:g.1399790A>C	GRCh37
NC_000019.8:g.1350790A>C	NCBI36
NG_009785.1:g.6763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+2T>G MANE Select	ENSP00000252288.1:n.327+2T>G
ENST00000447102.8:c.327+2T>G	ENSP00000403536.2:n.327+2T>G
ENST00000591788.3:c.10+2T>G
ENST00000640762.1:c.258+2T>G	ENSP00000492031.1:n.258+2T>G
ENST00000252288.6:c.327+2T>G	ENSP00000252288.1:n.327+2T>G
ENST00000447102.7:c.327+2T>G	ENSP00000403536.2:n.327+2T>G
ENST00000591788.2:c.12+2T>G	ENSP00000466341.2:n.12+2T>G
NM_000156.5:c.327+2T>G	NP_000147.1:n.327+2T>G
NM_138924.2:c.327+2T>G	NP_620279.1:n.327+2T>G
NM_000156.6:c.327+2T>G MANE Select	NP_000147.1:n.327+2T>G
NM_138924.3:c.327+2T>G	NP_620279.1:n.327+2T>G