Canonical Allele Identifier: CA2317699476
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399776T= , CM000681.2:g.1399776T= GRCh38
NC_000019.9:g.1399775T= , CM000681.1:g.1399775T= GRCh37
NC_000019.8:g.1350775T= NCBI36
NG_009785.1:g.6778A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.327+17A= MANE Select ENSP00000252288.1:n.327+17A=
ENST00000447102.8:c.327+17A= ENSP00000403536.2:n.327+17A=
ENST00000591788.3:c.10+17A=
ENST00000640762.1:c.258+17A= ENSP00000492031.1:n.258+17A=
ENST00000252288.6:c.327+17A= ENSP00000252288.1:n.327+17A=
ENST00000447102.7:c.327+17A= ENSP00000403536.2:n.327+17A=
ENST00000591788.2:c.12+17A= ENSP00000466341.2:n.12+17A=
NM_000156.5:c.327+17A= NP_000147.1:n.327+17A=
NM_138924.2:c.327+17A= NP_620279.1:n.327+17A=
NM_000156.6:c.327+17A= MANE Select NP_000147.1:n.327+17A=
NM_138924.3:c.327+17A= NP_620279.1:n.327+17A=