Canonical Allele Identifier: CA2317699489
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399789G= , CM000681.2:g.1399789G= GRCh38
NC_000019.9:g.1399788G= , CM000681.1:g.1399788G= GRCh37
NC_000019.8:g.1350788G= NCBI36
NG_009785.1:g.6765C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.327+4C= MANE Select ENSP00000252288.1:n.327+4C=
ENST00000447102.8:c.327+4C= ENSP00000403536.2:n.327+4C=
ENST00000591788.3:c.10+4C=
ENST00000640762.1:c.258+4C= ENSP00000492031.1:n.258+4C=
ENST00000252288.6:c.327+4C= ENSP00000252288.1:n.327+4C=
ENST00000447102.7:c.327+4C= ENSP00000403536.2:n.327+4C=
ENST00000591788.2:c.12+4C= ENSP00000466341.2:n.12+4C=
NM_000156.5:c.327+4C= NP_000147.1:n.327+4C=
NM_138924.2:c.327+4C= NP_620279.1:n.327+4C=
NM_000156.6:c.327+4C= MANE Select NP_000147.1:n.327+4C=
NM_138924.3:c.327+4C= NP_620279.1:n.327+4C=