Canonical Allele Identifier: CA314834
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205595
ClinVar RCV Id: RCV000187580 RCV000814698 RCV001833117
dbSNP Id: rs776537906
ExAC: 19:1397380 G / A
gnomAD v2: 19-1397380-G-A
gnomAD v3: 19-1397381-G-A
gnomAD v4: 19-1397381-G-A
MyVariant Identifiers: chr19:g.1397380G>A (hg19) chr19:g.1397381G>A (hg38)
ERepo: CA314834/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397381G>A , CM000681.2:g.1397381G>A GRCh38
NC_000019.9:g.1397380G>A , CM000681.1:g.1397380G>A GRCh37
NC_000019.8:g.1348380G>A NCBI36
NG_008283.1:g.18498G>A
NG_009785.1:g.9173C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.689C>T MANE Select ENSP00000252288.1:p.Thr230Met
ENST00000640762.1:c.620C>T ENSP00000492031.1:p.Thr207Met
ENST00000252288.6:c.689C>T ENSP00000252288.1:p.Thr230Met
NM_000156.5:c.689C>T NP_000147.1:p.Thr230Met
NM_000156.6:c.689C>T MANE Select NP_000147.1:p.Thr230Met
Search 100 bp 5'
Search 100 bp 3'