Canonical Allele Identifier: CA314852
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205604
ClinVar RCV Id: RCV000187589
dbSNP Id: rs779257170
ExAC: 19:1401304 A / AGGC
gnomAD v2: 19-1401304-A-AGGC
gnomAD v4: 19-1401305-A-AGGC
MyVariant Identifiers: chr19:g.1401305_1401307dupGGC (hg19) chr19:g.1401307_1401308insGGC (hg19) chr19:g.1401304_1401305insGGC (hg19) chr19:g.1401306_1401308dupGGC (hg38) chr19:g.1401305_1401306insGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401315_1401317dup , CM000681.2:g.1401315_1401317dup GRCh38
NC_000019.9:g.1401314_1401316dup , CM000681.1:g.1401314_1401316dup GRCh37
NC_000019.8:g.1352314_1352316dup NCBI36
NG_009785.1:g.5246_5248dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.169_171dup MANE Select ENSP00000252288.1:p.Ala57_Ser58insAla
ENST00000447102.8:c.169_171dup ENSP00000403536.2:p.Ala57_Ser58insAla
ENST00000640762.1:c.112+57_112+59dup ENSP00000492031.1:n.112+57_112+59dup
ENST00000252288.6:c.169_171dup ENSP00000252288.1:p.Ala57_Ser58insAla
ENST00000447102.7:c.169_171dup ENSP00000403536.2:p.Ala57_Ser58insAla
NM_000156.5:c.169_171dup NP_000147.1:p.Ala57_Ser58insAla
NM_138924.2:c.169_171dup NP_620279.1:p.Ala57_Ser58insAla
NM_000156.6:c.169_171dup MANE Select NP_000147.1:p.Ala57_Ser58insAla
NM_138924.3:c.169_171dup NP_620279.1:p.Ala57_Ser58insAla
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