Canonical Allele Identifier: CA504730275

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1127560
• ClinVar RCV Id: RCV001460024
• dbSNP Id: rs796052524
• gnomAD v4: 19-1399829-C-T
• MyVariant Identifiers: chr19:g.1399828C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399829C>T , CM000681.2:g.1399829C>T	GRCh38
NC_000019.9:g.1399828C>T , CM000681.1:g.1399828C>T	GRCh37
NC_000019.8:g.1350828C>T	NCBI36
NG_009785.1:g.6725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.291G>A MANE Select	ENSP00000252288.1:p.Gln97=
ENST00000447102.8:c.291G>A	ENSP00000403536.2:p.Gln97=
ENST00000640762.1:c.222G>A	ENSP00000492031.1:p.Gln74=
ENST00000252288.6:c.291G>A	ENSP00000252288.1:p.Gln97=
ENST00000447102.7:c.291G>A	ENSP00000403536.2:p.Gln97=
NM_000156.5:c.291G>A	NP_000147.1:p.Gln97=
NM_138924.2:c.291G>A	NP_620279.1:p.Gln97=
NM_000156.6:c.291G>A MANE Select	NP_000147.1:p.Gln97=
NM_138924.3:c.291G>A	NP_620279.1:p.Gln97=