Canonical Allele Identifier: CA2576548807
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401561-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401561C>A , CM000681.2:g.1401561C>A GRCh38
NC_000019.9:g.1401560C>A , CM000681.1:g.1401560C>A GRCh37
NC_000019.8:g.1352560C>A NCBI36
NG_009785.1:g.4993G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-85G>T ENSP00000403536.2:n.-85G>T
ENST00000447102.7:c.-85G>T ENSP00000403536.2:n.-85G>T
NM_000156.5:c.-85G>T NP_000147.1:n.-85G>T
NM_138924.2:c.-85G>T NP_620279.1:n.-85G>T