Canonical Allele Identifier: CA2317699458
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399747A= , CM000681.2:g.1399747A= GRCh38
NC_000019.9:g.1399746A= , CM000681.1:g.1399746A= GRCh37
NC_000019.8:g.1350746A= NCBI36
NG_009785.1:g.6807T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.327+46T= MANE Select ENSP00000252288.1:n.327+46T=
ENST00000447102.8:c.327+46T= ENSP00000403536.2:n.327+46T=
ENST00000591788.3:c.10+46T=
ENST00000640164.1:n.1T=
ENST00000640762.1:c.258+46T= ENSP00000492031.1:n.258+46T=
ENST00000252288.6:c.327+46T= ENSP00000252288.1:n.327+46T=
ENST00000447102.7:c.327+46T= ENSP00000403536.2:n.327+46T=
ENST00000591788.2:c.12+46T= ENSP00000466341.2:n.12+46T=
NM_000156.5:c.327+46T= NP_000147.1:n.327+46T=
NM_138924.2:c.327+46T= NP_620279.1:n.327+46T=
NM_000156.6:c.327+46T= MANE Select NP_000147.1:n.327+46T=
NM_138924.3:c.327+46T= NP_620279.1:n.327+46T=