Canonical Allele Identifier: CA314804
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 21065
dbSNP Id: rs80338735
gnomAD v2: 19-1399792-C-T
gnomAD v3: 19-1399793-C-T
gnomAD v4: 19-1399793-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399793C>T , CM000681.2:g.1399793C>T GRCh38
NC_000019.9:g.1399792C>T , CM000681.1:g.1399792C>T GRCh37
NC_000019.8:g.1350792C>T NCBI36
NG_009785.1:g.6761G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.327G>A MANE Select ENSP00000252288.1:p.Lys109=
ENST00000447102.8:c.327G>A ENSP00000403536.2:p.Lys109=
ENST00000591788.3:c.10G>A
ENST00000640762.1:c.258G>A ENSP00000492031.1:p.Lys86=
ENST00000252288.6:c.327G>A ENSP00000252288.1:p.Lys109=
ENST00000447102.7:c.327G>A ENSP00000403536.2:p.Lys109=
ENST00000591788.2:c.12G>A ENSP00000466341.2:p.Lys4=
NM_000156.5:c.327G>A NP_000147.1:p.Lys109=
NM_138924.2:c.327G>A NP_620279.1:p.Lys109=
NM_000156.6:c.327G>A MANE Select NP_000147.1:p.Lys109=
NM_138924.3:c.327G>A NP_620279.1:p.Lys109=