Canonical Allele Identifier: CA295620
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 167131
ClinVar RCV Id: RCV000153308 RCV000224880 RCV001009545 RCV001127426 RCV001081204 RCV002312992 RCV001251994 RCV003907448
dbSNP Id: rs200833152
ExAC: 19:1401397 A / G
gnomAD v2: 19-1401397-A-G
gnomAD v3: 19-1401398-A-G
gnomAD v4: 19-1401398-A-G
MyVariant Identifiers: chr19:g.1401397A>G (hg19) chr19:g.1401398A>G (hg38)
PubMed: PMID:23891399
ERepo: CA295620/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401398A>G , CM000681.2:g.1401398A>G GRCh38
NC_000019.9:g.1401397A>G , CM000681.1:g.1401397A>G GRCh37
NC_000019.8:g.1352397A>G NCBI36
NG_009785.1:g.5156T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.79T>C MANE Select ENSP00000252288.1:p.Tyr27His
ENST00000447102.8:c.79T>C ENSP00000403536.2:p.Tyr27His
ENST00000640762.1:c.79T>C ENSP00000492031.1:p.Tyr27His
ENST00000252288.6:c.79T>C ENSP00000252288.1:p.Tyr27His
ENST00000447102.7:c.79T>C ENSP00000403536.2:p.Tyr27His
NM_000156.5:c.79T>C NP_000147.1:p.Tyr27His
NM_138924.2:c.79T>C NP_620279.1:p.Tyr27His
NM_000156.6:c.79T>C MANE Select NP_000147.1:p.Tyr27His
NM_138924.3:c.79T>C NP_620279.1:p.Tyr27His
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