Canonical Allele Identifier: CA314820
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205588
ClinVar RCV Id: RCV000793466 RCV002354525 RCV001704993
dbSNP Id: rs565109128
ExAC: 19:1397482 G / A
gnomAD v2: 19-1397482-G-A
gnomAD v3: 19-1397483-G-A
gnomAD v4: 19-1397483-G-A
MyVariant Identifiers: chr19:g.1397482G>A (hg19) chr19:g.1397483G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397483G>A , CM000681.2:g.1397483G>A GRCh38
NC_000019.9:g.1397482G>A , CM000681.1:g.1397482G>A GRCh37
NC_000019.8:g.1348482G>A NCBI36
NG_008283.1:g.18600G>A
NG_009785.1:g.9071C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.587C>T MANE Select ENSP00000252288.1:p.Ala196Val
ENST00000640164.1:n.420C>T
ENST00000640762.1:c.518C>T ENSP00000492031.1:p.Ala173Val
ENST00000252288.6:c.587C>T ENSP00000252288.1:p.Ala196Val
NM_000156.5:c.587C>T NP_000147.1:p.Ala196Val
NM_000156.6:c.587C>T MANE Select NP_000147.1:p.Ala196Val
Search 100 bp 5'
Search 100 bp 3'