Canonical Allele Identifier: CA2582641167
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399322-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399322_1399323insT , CM000681.2:g.1399322_1399323insT GRCh38
NC_000019.9:g.1399321_1399322insT , CM000681.1:g.1399321_1399322insT GRCh37
NC_000019.8:g.1350321_1350322insT NCBI36
NG_009785.1:g.7231_7232insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-128_392-127insA MANE Select ENSP00000252288.1:n.392-128_392-127insA
ENST00000447102.8:c.392-128_392-127insA ENSP00000403536.2:n.392-128_392-127insA
ENST00000591788.3:c.75-128_75-127insA
ENST00000640164.1:n.225-128_225-127insA
ENST00000640762.1:c.323-128_323-127insA ENSP00000492031.1:n.323-128_323-127insA
ENST00000252288.6:c.392-128_392-127insA ENSP00000252288.1:n.392-128_392-127insA
ENST00000447102.7:c.392-128_392-127insA ENSP00000403536.2:n.392-128_392-127insA
ENST00000591788.2:c.77-128_77-127insA ENSP00000466341.2:n.77-128_77-127insA
NM_000156.5:c.392-128_392-127insA NP_000147.1:n.392-128_392-127insA
NM_138924.2:c.392-128_392-127insA NP_620279.1:n.392-128_392-127insA
NM_000156.6:c.392-128_392-127insA MANE Select NP_000147.1:n.392-128_392-127insA
NM_138924.3:c.392-128_392-127insA NP_620279.1:n.392-128_392-127insA
Search 100 bp 5'
Search 100 bp 3'