Canonical Allele Identifier: CA2582642020
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401564-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401564C>G , CM000681.2:g.1401564C>G GRCh38
NC_000019.9:g.1401563C>G , CM000681.1:g.1401563C>G GRCh37
NC_000019.8:g.1352563C>G NCBI36
NG_009785.1:g.4990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-88G>C ENSP00000403536.2:n.-88G>C
ENST00000447102.7:c.-88G>C ENSP00000403536.2:n.-88G>C
NM_000156.5:c.-88G>C NP_000147.1:n.-88G>C
NM_138924.2:c.-88G>C NP_620279.1:n.-88G>C