Canonical Allele Identifier: CA2576548805
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401556-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401556G>A , CM000681.2:g.1401556G>A GRCh38
NC_000019.9:g.1401555G>A , CM000681.1:g.1401555G>A GRCh37
NC_000019.8:g.1352555G>A NCBI36
NG_009785.1:g.4998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-80C>T ENSP00000403536.2:n.-80C>T
ENST00000447102.7:c.-80C>T ENSP00000403536.2:n.-80C>T
NM_000156.5:c.-80C>T NP_000147.1:n.-80C>T
NM_138924.2:c.-80C>T NP_620279.1:n.-80C>T
Search 100 bp 5'
Search 100 bp 3'