Canonical Allele Identifier: CA515106039

Gene: ALG12

Linked Data

• ClinVar Variation Id: 2875693
• ClinVar RCV Id: RCV003608480
• MyVariant Identifiers: chr22:g.50307309C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913661C>T , CM000684.2:g.49913661C>T	GRCh38
NC_000022.10:g.50307309C>T , CM000684.1:g.50307309C>T	GRCh37
NC_000022.9:g.48693313C>T	NCBI36
NG_008927.1:g.9798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.105G>A MANE Select	ENSP00000333813.5:p.Glu35=
ENST00000330817.10:c.105G>A	ENSP00000333813.5:p.Glu35=
NM_024105.3:c.105G>A	NP_077010.1:p.Glu35=
XM_011530369.1:c.105G>A	XP_011528671.1:p.Glu35=
XM_011530370.1:c.105G>A	XP_011528672.1:p.Glu35=
XM_011530371.1:c.105G>A	XP_011528673.1:p.Glu35=
XM_011530371.2:c.105G>A	XP_011528673.1:p.Glu35=
XM_017028936.1:c.105G>A	XP_016884425.1:p.Glu35=
XM_017028937.1:c.105G>A	XP_016884426.1:p.Glu35=
NM_024105.4:c.105G>A MANE Select	NP_077010.1:p.Glu35=