Canonical Allele Identifier: CA2317699414
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399680A= , CM000681.2:g.1399680A= GRCh38
NC_000019.9:g.1399679A= , CM000681.1:g.1399679A= GRCh37
NC_000019.8:g.1350679A= NCBI36
NG_009785.1:g.6874T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.328-93T= MANE Select ENSP00000252288.1:n.328-93T=
ENST00000447102.8:c.328-93T= ENSP00000403536.2:n.328-93T=
ENST00000591788.3:c.11-93T=
ENST00000640164.1:n.68T=
ENST00000640762.1:c.259-93T= ENSP00000492031.1:n.259-93T=
ENST00000252288.6:c.328-93T= ENSP00000252288.1:n.328-93T=
ENST00000447102.7:c.328-93T= ENSP00000403536.2:n.328-93T=
ENST00000591788.2:c.13-93T= ENSP00000466341.2:n.13-93T=
NM_000156.5:c.328-93T= NP_000147.1:n.328-93T=
NM_138924.2:c.328-93T= NP_620279.1:n.328-93T=
NM_000156.6:c.328-93T= MANE Select NP_000147.1:n.328-93T=
NM_138924.3:c.328-93T= NP_620279.1:n.328-93T=