Canonical Allele Identifier: CA9043747

Gene: GAMT

Linked Data

• ClinVar Variation Id: 431854
• ClinVar RCV Id: RCV000514101 ; RCV001244364 ; RCV001275206 ; RCV002318602
• dbSNP Id: rs765070826
• ExAC: 19:1399827 G / A
• gnomAD v2: 19-1399827-G-A
• gnomAD v3: 19-1399828-G-A
• gnomAD v4: 19-1399828-G-A
• MyVariant Identifiers: chr19:g.1399827G>A (hg19) ; chr19:g.1399828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399828G>A , CM000681.2:g.1399828G>A	GRCh38
NC_000019.9:g.1399827G>A , CM000681.1:g.1399827G>A	GRCh37
NC_000019.8:g.1350827G>A	NCBI36
NG_009785.1:g.6726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.292C>T MANE Select	ENSP00000252288.1:p.Arg98Trp
ENST00000447102.8:c.292C>T	ENSP00000403536.2:p.Arg98Trp
ENST00000640762.1:c.223C>T	ENSP00000492031.1:p.Arg75Trp
ENST00000252288.6:c.292C>T	ENSP00000252288.1:p.Arg98Trp
ENST00000447102.7:c.292C>T	ENSP00000403536.2:p.Arg98Trp
NM_000156.5:c.292C>T	NP_000147.1:p.Arg98Trp
NM_138924.2:c.292C>T	NP_620279.1:p.Arg98Trp
NM_000156.6:c.292C>T MANE Select	NP_000147.1:p.Arg98Trp
NM_138924.3:c.292C>T	NP_620279.1:p.Arg98Trp