Canonical Allele Identifier: CA314832
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205594
ClinVar RCV Id: RCV000187579 RCV002305457
dbSNP Id: rs796052528
gnomAD v4: 19-1397393-G-A
MyVariant Identifiers: chr19:g.1397392G>A (hg19) chr19:g.1397393G>A (hg38)
ERepo: CA314832/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397393G>A , CM000681.2:g.1397393G>A GRCh38
NC_000019.9:g.1397392G>A , CM000681.1:g.1397392G>A GRCh37
NC_000019.8:g.1348392G>A NCBI36
NG_008283.1:g.18510G>A
NG_009785.1:g.9161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.677C>T MANE Select ENSP00000252288.1:p.Pro226Leu
ENST00000640164.1:n.510C>T
ENST00000640762.1:c.608C>T ENSP00000492031.1:p.Pro203Leu
ENST00000252288.6:c.677C>T ENSP00000252288.1:p.Pro226Leu
NM_000156.5:c.677C>T NP_000147.1:p.Pro226Leu
NM_000156.6:c.677C>T MANE Select NP_000147.1:p.Pro226Leu
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