Canonical Allele Identifier: CA402996293

Gene: GAMT

Linked Data

• dbSNP Id: rs773283573
• gnomAD v2: 19-1399829-T-C
• gnomAD v4: 19-1399830-T-C
• MyVariant Identifiers: chr19:g.1399829T>C (hg19) ; chr19:g.1399830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399830T>C , CM000681.2:g.1399830T>C	GRCh38
NC_000019.9:g.1399829T>C , CM000681.1:g.1399829T>C	GRCh37
NC_000019.8:g.1350829T>C	NCBI36
NG_009785.1:g.6724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.290A>G MANE Select	ENSP00000252288.1:p.Gln97Arg
ENST00000447102.8:c.290A>G	ENSP00000403536.2:p.Gln97Arg
ENST00000640762.1:c.221A>G	ENSP00000492031.1:p.Gln74Arg
ENST00000252288.6:c.290A>G	ENSP00000252288.1:p.Gln97Arg
ENST00000447102.7:c.290A>G	ENSP00000403536.2:p.Gln97Arg
NM_000156.5:c.290A>G	NP_000147.1:p.Gln97Arg
NM_138924.2:c.290A>G	NP_620279.1:p.Gln97Arg
NM_000156.6:c.290A>G MANE Select	NP_000147.1:p.Gln97Arg
NM_138924.3:c.290A>G	NP_620279.1:p.Gln97Arg