Canonical Allele Identifier: CA2317699038
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399013C= , CM000681.2:g.1399013C= GRCh38
NC_000019.9:g.1399012C= , CM000681.1:g.1399012C= GRCh37
NC_000019.8:g.1350012C= NCBI36
NG_009785.1:g.7541G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.473G= MANE Select ENSP00000252288.1:p.Arg158=
ENST00000447102.8:c.473G= ENSP00000403536.2:p.Arg158=
ENST00000591788.3:c.156G=
ENST00000640164.1:n.306G=
ENST00000640762.1:c.404G= ENSP00000492031.1:p.Arg135=
ENST00000252288.6:c.473G= ENSP00000252288.1:p.Arg158=
ENST00000447102.7:c.473G= ENSP00000403536.2:p.Arg158=
ENST00000591788.2:c.158G= ENSP00000466341.2:p.Arg53=
NM_000156.5:c.473G= NP_000147.1:p.Arg158=
NM_138924.2:c.473G= NP_620279.1:p.Arg158=
NM_000156.6:c.473G= MANE Select NP_000147.1:p.Arg158=
NM_138924.3:c.473G= NP_620279.1:p.Arg158=