Canonical Allele Identifier: CA992512215
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082634863
gnomAD v3: 19-1401569-C-G
gnomAD v4: 19-1401569-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401569C>G , CM000681.2:g.1401569C>G GRCh38
NC_000019.9:g.1401568C>G , CM000681.1:g.1401568C>G GRCh37
NC_000019.8:g.1352568C>G NCBI36
NG_009785.1:g.4985G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-93G>C ENSP00000403536.2:n.-93G>C
ENST00000447102.7:c.-93G>C ENSP00000403536.2:n.-93G>C
NM_000156.5:c.-93G>C NP_000147.1:n.-93G>C
NM_138924.2:c.-93G>C NP_620279.1:n.-93G>C
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