Canonical Allele Identifier: CA783507843
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1168418537

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401526_1401531del , CM000681.2:g.1401526_1401531del GRCh38
NC_000019.9:g.1401525_1401530del , CM000681.1:g.1401525_1401530del GRCh37
NC_000019.8:g.1352525_1352530del NCBI36
NG_009785.1:g.5026_5031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-52_-47del MANE Select ENSP00000252288.1:n.-52_-47del
ENST00000447102.8:c.-52_-47del ENSP00000403536.2:n.-52_-47del
ENST00000252288.6:c.-52_-47del ENSP00000252288.1:n.-52_-47del
ENST00000447102.7:c.-52_-47del ENSP00000403536.2:n.-52_-47del
NM_000156.5:c.-52_-47del NP_000147.1:n.-52_-47del
NM_138924.2:c.-52_-47del NP_620279.1:n.-52_-47del
NM_000156.6:c.-52_-47del MANE Select NP_000147.1:n.-52_-47del
NM_138924.3:c.-52_-47del NP_620279.1:n.-52_-47del