Canonical Allele Identifier: CA9043790
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 640432
ClinVar RCV Id: RCV000793456 RCV001830695 RCV002536964 RCV003479219
dbSNP Id: rs768895098
ExAC: 19:1401298 T / TGGA
gnomAD v2: 19-1401298-T-TGGA
gnomAD v3: 19-1401299-T-TGGA
gnomAD v4: 19-1401299-T-TGGA
MyVariant Identifiers: chr19:g.1401298_1401299insGGA (hg19) chr19:g.1401299_1401300insGGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401305_1401307dup , CM000681.2:g.1401305_1401307dup GRCh38
NC_000019.9:g.1401304_1401306dup , CM000681.1:g.1401304_1401306dup GRCh37
NC_000019.8:g.1352304_1352306dup NCBI36
NG_009785.1:g.5252_5254dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.175_177dup MANE Select ENSP00000252288.1:p.Ser59_Lys60insSer
ENST00000447102.8:c.175_177dup ENSP00000403536.2:p.Ser59_Lys60insSer
ENST00000640762.1:c.112+63_112+65dup ENSP00000492031.1:n.112+63_112+65dup
ENST00000252288.6:c.175_177dup ENSP00000252288.1:p.Ser59_Lys60insSer
ENST00000447102.7:c.175_177dup ENSP00000403536.2:p.Ser59_Lys60insSer
NM_000156.5:c.175_177dup NP_000147.1:p.Ser59_Lys60insSer
NM_138924.2:c.175_177dup NP_620279.1:p.Ser59_Lys60insSer
NM_000156.6:c.175_177dup MANE Select NP_000147.1:p.Ser59_Lys60insSer
NM_138924.3:c.175_177dup NP_620279.1:p.Ser59_Lys60insSer
Search 100 bp 5'
Search 100 bp 3'