Canonical Allele Identifier: CA314836
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205596
ClinVar RCV Id: RCV000464619 RCV000711736 RCV001123244 RCV002317100
dbSNP Id: rs201029006
ExAC: 19:1397362 C / G
gnomAD v2: 19-1397362-C-G
gnomAD v3: 19-1397363-C-G
gnomAD v4: 19-1397363-C-G
MyVariant Identifiers: chr19:g.1397362C>G (hg19) chr19:g.1397363C>G (hg38)
ERepo: CA314836/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397363C>G , CM000681.2:g.1397363C>G GRCh38
NC_000019.9:g.1397362C>G , CM000681.1:g.1397362C>G GRCh37
NC_000019.8:g.1348362C>G NCBI36
NG_008283.1:g.18480C>G
NG_009785.1:g.9191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.707G>C MANE Select ENSP00000252288.1:p.Gly236Ala
ENST00000640762.1:c.638G>C ENSP00000492031.1:p.Gly213Ala
ENST00000252288.6:c.707G>C ENSP00000252288.1:p.Gly236Ala
NM_000156.5:c.707G>C NP_000147.1:p.Gly236Ala
NM_000156.6:c.707G>C MANE Select NP_000147.1:p.Gly236Ala
Search 100 bp 5'
Search 100 bp 3'