Canonical Allele Identifier: CA314842
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205599
ClinVar RCV Id: RCV000187584 RCV001317220 RCV001833118
dbSNP Id: rs796052530
gnomAD v2: 19-1401408-G-A
gnomAD v3: 19-1401409-G-A
gnomAD v4: 19-1401409-G-A
MyVariant Identifiers: chr19:g.1401408G>A (hg19) chr19:g.1401409G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401409G>A , CM000681.2:g.1401409G>A GRCh38
NC_000019.9:g.1401408G>A , CM000681.1:g.1401408G>A GRCh37
NC_000019.8:g.1352408G>A NCBI36
NG_009785.1:g.5145C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.68C>T MANE Select ENSP00000252288.1:p.Ala23Val
ENST00000447102.8:c.68C>T ENSP00000403536.2:p.Ala23Val
ENST00000640762.1:c.68C>T ENSP00000492031.1:p.Ala23Val
ENST00000252288.6:c.68C>T ENSP00000252288.1:p.Ala23Val
ENST00000447102.7:c.68C>T ENSP00000403536.2:p.Ala23Val
NM_000156.5:c.68C>T NP_000147.1:p.Ala23Val
NM_138924.2:c.68C>T NP_620279.1:p.Ala23Val
NM_000156.6:c.68C>T MANE Select NP_000147.1:p.Ala23Val
NM_138924.3:c.68C>T NP_620279.1:p.Ala23Val
Search 100 bp 5'
Search 100 bp 3'