Canonical Allele Identifier: CA2582642028
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401568-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401568C>A , CM000681.2:g.1401568C>A GRCh38
NC_000019.9:g.1401567C>A , CM000681.1:g.1401567C>A GRCh37
NC_000019.8:g.1352567C>A NCBI36
NG_009785.1:g.4986G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-92G>T ENSP00000403536.2:n.-92G>T
ENST00000447102.7:c.-92G>T ENSP00000403536.2:n.-92G>T
NM_000156.5:c.-92G>T NP_000147.1:n.-92G>T
NM_138924.2:c.-92G>T NP_620279.1:n.-92G>T