Canonical Allele Identifier: CA2582641139
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399293-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399293_1399294insA , CM000681.2:g.1399293_1399294insA GRCh38
NC_000019.9:g.1399292_1399293insA , CM000681.1:g.1399292_1399293insA GRCh37
NC_000019.8:g.1350292_1350293insA NCBI36
NG_009785.1:g.7260_7261insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-99_392-98insT MANE Select ENSP00000252288.1:n.392-99_392-98insT
ENST00000447102.8:c.392-99_392-98insT ENSP00000403536.2:n.392-99_392-98insT
ENST00000591788.3:c.75-99_75-98insT
ENST00000640164.1:n.225-99_225-98insT
ENST00000640762.1:c.323-99_323-98insT ENSP00000492031.1:n.323-99_323-98insT
ENST00000252288.6:c.392-99_392-98insT ENSP00000252288.1:n.392-99_392-98insT
ENST00000447102.7:c.392-99_392-98insT ENSP00000403536.2:n.392-99_392-98insT
ENST00000591788.2:c.77-99_77-98insT ENSP00000466341.2:n.77-99_77-98insT
NM_000156.5:c.392-99_392-98insT NP_000147.1:n.392-99_392-98insT
NM_138924.2:c.392-99_392-98insT NP_620279.1:n.392-99_392-98insT
NM_000156.6:c.392-99_392-98insT MANE Select NP_000147.1:n.392-99_392-98insT
NM_138924.3:c.392-99_392-98insT NP_620279.1:n.392-99_392-98insT
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