Canonical Allele Identifier: CA314855
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205606
ClinVar RCV Id: RCV000187591 RCV000711735 RCV001082409 RCV001124346 RCV002317102 RCV003967474
dbSNP Id: rs147739199
ExAC: 19:1397488 A / G
gnomAD v2: 19-1397488-A-G
gnomAD v3: 19-1397489-A-G
gnomAD v4: 19-1397489-A-G
MyVariant Identifiers: chr19:g.1397488A>G (hg19) chr19:g.1397489A>G (hg38)
ERepo: CA314855/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397489A>G , CM000681.2:g.1397489A>G GRCh38
NC_000019.9:g.1397488A>G , CM000681.1:g.1397488A>G GRCh37
NC_000019.8:g.1348488A>G NCBI36
NG_008283.1:g.18606A>G
NG_009785.1:g.9065T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.581T>C MANE Select ENSP00000252288.1:p.Val194Ala
ENST00000640164.1:n.414T>C
ENST00000640762.1:c.512T>C ENSP00000492031.1:p.Val171Ala
ENST00000252288.6:c.581T>C ENSP00000252288.1:p.Val194Ala
NM_000156.5:c.581T>C NP_000147.1:p.Val194Ala
NM_000156.6:c.581T>C MANE Select NP_000147.1:p.Val194Ala
Search 100 bp 5'
Search 100 bp 3'