Canonical Allele Identifier: CA2582642019
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401563-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401563A>G , CM000681.2:g.1401563A>G GRCh38
NC_000019.9:g.1401562A>G , CM000681.1:g.1401562A>G GRCh37
NC_000019.8:g.1352562A>G NCBI36
NG_009785.1:g.4991T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447102.8:c.-87T>C ENSP00000403536.2:n.-87T>C
ENST00000447102.7:c.-87T>C ENSP00000403536.2:n.-87T>C
NM_000156.5:c.-87T>C NP_000147.1:n.-87T>C
NM_138924.2:c.-87T>C NP_620279.1:n.-87T>C