Canonical Allele Identifier: CA9043671
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 573140
ClinVar RCV Id: RCV000694724 RCV001784322
dbSNP Id: rs774144200
ExAC: 19:1399183 C / T
gnomAD v2: 19-1399183-C-T
gnomAD v3: 19-1399184-C-T
gnomAD v4: 19-1399184-C-T
MyVariant Identifiers: chr19:g.1399183C>T (hg19) chr19:g.1399184C>T (hg38)
ERepo: CA9043671/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399184C>T , CM000681.2:g.1399184C>T GRCh38
NC_000019.9:g.1399183C>T , CM000681.1:g.1399183C>T GRCh37
NC_000019.8:g.1350183C>T NCBI36
NG_009785.1:g.7370G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.403G>A MANE Select ENSP00000252288.1:p.Asp135Asn
ENST00000447102.8:c.403G>A ENSP00000403536.2:p.Asp135Asn
ENST00000591788.3:c.86G>A
ENST00000640164.1:n.236G>A
ENST00000640762.1:c.334G>A ENSP00000492031.1:p.Asp112Asn
ENST00000252288.6:c.403G>A ENSP00000252288.1:p.Asp135Asn
ENST00000447102.7:c.403G>A ENSP00000403536.2:p.Asp135Asn
ENST00000591788.2:c.88G>A ENSP00000466341.2:p.Asp30Asn
NM_000156.5:c.403G>A NP_000147.1:p.Asp135Asn
NM_138924.2:c.403G>A NP_620279.1:p.Asp135Asn
NM_000156.6:c.403G>A MANE Select NP_000147.1:p.Asp135Asn
NM_138924.3:c.403G>A NP_620279.1:p.Asp135Asn
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