Canonical Allele Identifier: CA9043751
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 965376
ClinVar RCV Id: RCV001239812 RCV001828940
dbSNP Id: rs774689819
ExAC: 19:1399839 C / T
gnomAD v2: 19-1399839-C-T
gnomAD v3: 19-1399840-C-T
gnomAD v4: 19-1399840-C-T
MyVariant Identifiers: chr19:g.1399839C>T (hg19) chr19:g.1399840C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399840C>T , CM000681.2:g.1399840C>T GRCh38
NC_000019.9:g.1399839C>T , CM000681.1:g.1399839C>T GRCh37
NC_000019.8:g.1350839C>T NCBI36
NG_009785.1:g.6714G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.280G>A MANE Select ENSP00000252288.1:p.Gly94Ser
ENST00000447102.8:c.280G>A ENSP00000403536.2:p.Gly94Ser
ENST00000640762.1:c.211G>A ENSP00000492031.1:p.Gly71Ser
ENST00000252288.6:c.280G>A ENSP00000252288.1:p.Gly94Ser
ENST00000447102.7:c.280G>A ENSP00000403536.2:p.Gly94Ser
NM_000156.5:c.280G>A NP_000147.1:p.Gly94Ser
NM_138924.2:c.280G>A NP_620279.1:p.Gly94Ser
NM_000156.6:c.280G>A MANE Select NP_000147.1:p.Gly94Ser
NM_138924.3:c.280G>A NP_620279.1:p.Gly94Ser
Search 100 bp 5'
Search 100 bp 3'