Canonical Allele Identifier: CA314830
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205593
ClinVar RCV Id: RCV000529306 RCV000732178 RCV001123245 RCV002362982
dbSNP Id: rs141471799
ExAC: 19:1397399 C / T
gnomAD v2: 19-1397399-C-T
gnomAD v3: 19-1397400-C-T
gnomAD v4: 19-1397400-C-T
MyVariant Identifiers: chr19:g.1397399C>T (hg19) chr19:g.1397400C>T (hg38)
ERepo: CA314830/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397400C>T , CM000681.2:g.1397400C>T GRCh38
NC_000019.9:g.1397399C>T , CM000681.1:g.1397399C>T GRCh37
NC_000019.8:g.1348399C>T NCBI36
NG_008283.1:g.18517C>T
NG_009785.1:g.9154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.670G>A MANE Select ENSP00000252288.1:p.Ala224Thr
ENST00000640164.1:n.503G>A
ENST00000640762.1:c.601G>A ENSP00000492031.1:p.Ala201Thr
ENST00000252288.6:c.670G>A ENSP00000252288.1:p.Ala224Thr
NM_000156.5:c.670G>A NP_000147.1:p.Ala224Thr
NM_000156.6:c.670G>A MANE Select NP_000147.1:p.Ala224Thr
Search 100 bp 5'
Search 100 bp 3'