Canonical Allele Identifier: CA2317699505
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399812_1399813delinsGC , CM000681.2:g.1399812_1399813delinsGC GRCh38
NC_000019.9:g.1399811_1399812delinsGC , CM000681.1:g.1399811_1399812delinsGC GRCh37
NC_000019.8:g.1350811_1350812delinsGC NCBI36
NG_009785.1:g.6741_6742delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.307_308delinsGC MANE Select ENSP00000252288.1:p.Ala103=
ENST00000447102.8:c.307_308delinsGC ENSP00000403536.2:p.Ala103=
ENST00000640762.1:c.238_239delinsGC ENSP00000492031.1:p.Ala80=
ENST00000252288.6:c.307_308delinsGC ENSP00000252288.1:p.Ala103=
ENST00000447102.7:c.307_308delinsGC ENSP00000403536.2:p.Ala103=
NM_000156.5:c.307_308delinsGC NP_000147.1:p.Ala103=
NM_138924.2:c.307_308delinsGC NP_620279.1:p.Ala103=
NM_000156.6:c.307_308delinsGC MANE Select NP_000147.1:p.Ala103=
NM_138924.3:c.307_308delinsGC NP_620279.1:p.Ala103=
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