Canonical Allele Identifier: CA504731743
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1134338
ClinVar RCV Id: RCV001469197
dbSNP Id: rs763777192
gnomAD v2: 19-1401443-C-T
gnomAD v3: 19-1401444-C-T
gnomAD v4: 19-1401444-C-T
MyVariant Identifiers: chr19:g.1401443C>T (hg19) chr19:g.1401444C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401444C>T , CM000681.2:g.1401444C>T GRCh38
NC_000019.9:g.1401443C>T , CM000681.1:g.1401443C>T GRCh37
NC_000019.8:g.1352443C>T NCBI36
NG_009785.1:g.5110G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.33G>A MANE Select ENSP00000252288.1:p.Ala11=
ENST00000447102.8:c.33G>A ENSP00000403536.2:p.Ala11=
ENST00000640762.1:c.33G>A ENSP00000492031.1:p.Ala11=
ENST00000252288.6:c.33G>A ENSP00000252288.1:p.Ala11=
ENST00000447102.7:c.33G>A ENSP00000403536.2:p.Ala11=
NM_000156.5:c.33G>A NP_000147.1:p.Ala11=
NM_138924.2:c.33G>A NP_620279.1:p.Ala11=
NM_000156.6:c.33G>A MANE Select NP_000147.1:p.Ala11=
NM_138924.3:c.33G>A NP_620279.1:p.Ala11=
Search 100 bp 5'
Search 100 bp 3'