Canonical Allele Identifier: CA2317699174
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399251C= , CM000681.2:g.1399251C= GRCh38
NC_000019.9:g.1399250C= , CM000681.1:g.1399250C= GRCh37
NC_000019.8:g.1350250C= NCBI36
NG_009785.1:g.7303G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-56G= MANE Select ENSP00000252288.1:n.392-56G=
ENST00000447102.8:c.392-56G= ENSP00000403536.2:n.392-56G=
ENST00000591788.3:c.75-56G=
ENST00000640164.1:n.225-56G=
ENST00000640762.1:c.323-56G= ENSP00000492031.1:n.323-56G=
ENST00000252288.6:c.392-56G= ENSP00000252288.1:n.392-56G=
ENST00000447102.7:c.392-56G= ENSP00000403536.2:n.392-56G=
ENST00000591788.2:c.77-56G= ENSP00000466341.2:n.77-56G=
NM_000156.5:c.392-56G= NP_000147.1:n.392-56G=
NM_138924.2:c.392-56G= NP_620279.1:n.392-56G=
NM_000156.6:c.392-56G= MANE Select NP_000147.1:n.392-56G=
NM_138924.3:c.392-56G= NP_620279.1:n.392-56G=