Canonical Allele Identifier: CA9043752

Gene: GAMT

Linked Data

• dbSNP Id: rs767814433
• ExAC: 19:1399843 A / C
• gnomAD v2: 19-1399843-A-C
• gnomAD v4: 19-1399844-A-C
• MyVariant Identifiers: chr19:g.1399843A>C (hg19) ; chr19:g.1399844A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399844A>C , CM000681.2:g.1399844A>C	GRCh38
NC_000019.9:g.1399843A>C , CM000681.1:g.1399843A>C	GRCh37
NC_000019.8:g.1350843A>C	NCBI36
NG_009785.1:g.6710T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.276T>G MANE Select	ENSP00000252288.1:p.Asn92Lys
ENST00000447102.8:c.276T>G	ENSP00000403536.2:p.Asn92Lys
ENST00000640762.1:c.207T>G	ENSP00000492031.1:p.Asn69Lys
ENST00000252288.6:c.276T>G	ENSP00000252288.1:p.Asn92Lys
ENST00000447102.7:c.276T>G	ENSP00000403536.2:p.Asn92Lys
NM_000156.5:c.276T>G	NP_000147.1:p.Asn92Lys
NM_138924.2:c.276T>G	NP_620279.1:p.Asn92Lys
NM_000156.6:c.276T>G MANE Select	NP_000147.1:p.Asn92Lys
NM_138924.3:c.276T>G	NP_620279.1:p.Asn92Lys