Canonical Allele Identifier: CA295620

Gene: GAMT

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)
• ERepo: CA295620/MONDO:0012999/026
• PubMed: PMID:23891399

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