Canonical Allele Identifier: CA2317698928
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398779T= , CM000681.2:g.1398779T= GRCh38
NC_000019.9:g.1398778T= , CM000681.1:g.1398778T= GRCh37
NC_000019.8:g.1349778T= NCBI36
NG_009785.1:g.7775A=

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.570+137A= MANE Select ENSP00000252288.1:n.570+137A=
ENST00000447102.8:c.707A= ENSP00000403536.2:p.His236=
ENST00000591788.3:c.254-32A=
ENST00000640164.1:n.403+137A=
ENST00000640762.1:c.501+137A= ENSP00000492031.1:n.501+137A=
ENST00000252288.6:c.570+137A= ENSP00000252288.1:n.570+137A=
ENST00000447102.7:c.707A= ENSP00000403536.2:p.His236=
ENST00000591788.2:c.256-32A= ENSP00000466341.2:n.256-32A=
NM_000156.5:c.570+137A= NP_000147.1:n.570+137A=
NM_138924.2:c.707A= NP_620279.1:p.His236=
NM_000156.6:c.570+137A= MANE Select NP_000147.1:n.570+137A=
NM_138924.3:c.707A= NP_620279.1:p.His236=