Canonical Allele Identifier: CA304067361
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 850261
ClinVar RCV Id: RCV001054392 RCV002429662 RCV003313176 RCV003413863 RCV003467775
dbSNP Id: rs967689898
gnomAD v2: 19-1401451-TG-T
gnomAD v3: 19-1401452-TG-T
gnomAD v4: 19-1401452-TG-T
MyVariant Identifiers: chr19:g.1401452del (hg19) chr19:g.1401453del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401457del , CM000681.2:g.1401457del GRCh38
NC_000019.9:g.1401456del , CM000681.1:g.1401456del GRCh37
NC_000019.8:g.1352456del NCBI36
NG_009785.1:g.5101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.24del MANE Select ENSP00000252288.1:p.Ile9SerfsTer?
ENST00000447102.8:c.24del ENSP00000403536.2:p.Ile9SerfsTer?
ENST00000640762.1:c.24del ENSP00000492031.1:p.Ile9SerfsTer?
ENST00000252288.6:c.24del ENSP00000252288.1:p.Ile9SerfsTer?
ENST00000447102.7:c.24del ENSP00000403536.2:p.Ile9SerfsTer?
NM_000156.5:c.24del NP_000147.1:p.Ile9SerfsTer?
NM_138924.2:c.24del NP_620279.1:p.Ile9SerfsTer?
NM_000156.6:c.24del MANE Select NP_000147.1:p.Ile9SerfsTer?
NM_138924.3:c.24del NP_620279.1:p.Ile9SerfsTer?
Search 100 bp 5'
Search 100 bp 3'