Canonical Allele Identifier: CA992512199

Gene: GAMT

Linked Data

• dbSNP Id: rs2082634249
• gnomAD v3: 19-1401501-C-G
• gnomAD v4: 19-1401501-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401501C>G , CM000681.2:g.1401501C>G	GRCh38
NC_000019.9:g.1401500C>G , CM000681.1:g.1401500C>G	GRCh37
NC_000019.8:g.1352500C>G	NCBI36
NG_009785.1:g.5053G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.-25G>C MANE Select	ENSP00000252288.1:n.-25G>C
ENST00000447102.8:c.-25G>C	ENSP00000403536.2:n.-25G>C
ENST00000252288.6:c.-25G>C	ENSP00000252288.1:n.-25G>C
ENST00000447102.7:c.-25G>C	ENSP00000403536.2:n.-25G>C
NM_000156.5:c.-25G>C	NP_000147.1:n.-25G>C
NM_138924.2:c.-25G>C	NP_620279.1:n.-25G>C
NM_000156.6:c.-25G>C MANE Select	NP_000147.1:n.-25G>C
NM_138924.3:c.-25G>C	NP_620279.1:n.-25G>C