Canonical Allele Identifier: CA9043627
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 810628
ClinVar RCV Id: RCV001030778 RCV001766818 RCV002255172
dbSNP Id: rs749390953
ExAC: 19:1398993 GC / G
gnomAD v2: 19-1398993-GC-G
gnomAD v3: 19-1398994-GC-G
gnomAD v4: 19-1398994-GC-G
COSMIC: COSM5173555
MyVariant Identifiers: chr19:g.1398994del (hg19) chr19:g.1398996del (hg38) chr19:g.1398995del (hg38)
ERepo: CA9043627/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399000del , CM000681.2:g.1399000del GRCh38
NC_000019.9:g.1398999del , CM000681.1:g.1398999del GRCh37
NC_000019.8:g.1349999del NCBI36
NG_009785.1:g.7559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.491del MANE Select ENSP00000252288.1:p.Gly164AlafsTer14
ENST00000447102.8:c.491del ENSP00000403536.2:p.Gly164AlafsTer14
ENST00000591788.3:c.174del
ENST00000640164.1:n.324del
ENST00000640762.1:c.422del ENSP00000492031.1:p.Gly141AlafsTer14
ENST00000252288.6:c.491del ENSP00000252288.1:p.Gly164AlafsTer14
ENST00000447102.7:c.491del ENSP00000403536.2:p.Gly164AlafsTer14
ENST00000591788.2:c.176del ENSP00000466341.2:p.Gly59AlafsTer14
NM_000156.5:c.491del NP_000147.1:p.Gly164AlafsTer14
NM_138924.2:c.491del NP_620279.1:p.Gly164AlafsTer14
NM_000156.6:c.491del MANE Select NP_000147.1:p.Gly164AlafsTer14
NM_138924.3:c.491del NP_620279.1:p.Gly164AlafsTer14
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