Canonical Allele Identifier: CA402990219
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 544252
ClinVar RCV Id: RCV000655357 RCV002305524
dbSNP Id: rs1401966018
gnomAD v2: 19-1397368-G-A
gnomAD v3: 19-1397369-G-A
gnomAD v4: 19-1397369-G-A
MyVariant Identifiers: chr19:g.1397368G>A (hg19) chr19:g.1397369G>A (hg38)
ERepo: CA402990219/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397369G>A , CM000681.2:g.1397369G>A GRCh38
NC_000019.9:g.1397368G>A , CM000681.1:g.1397368G>A GRCh37
NC_000019.8:g.1348368G>A NCBI36
NG_008283.1:g.18486G>A
NG_009785.1:g.9185C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.701C>T MANE Select ENSP00000252288.1:p.Thr234Ile
ENST00000640762.1:c.632C>T ENSP00000492031.1:p.Thr211Ile
ENST00000252288.6:c.701C>T ENSP00000252288.1:p.Thr234Ile
NM_000156.5:c.701C>T NP_000147.1:p.Thr234Ile
NM_000156.6:c.701C>T MANE Select NP_000147.1:p.Thr234Ile
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