Canonical Allele Identifier: CA374231378

Gene: ALG2

Linked Data

• gnomAD v4: 9-99221600-G-A
• MyVariant Identifiers: chr9:g.101983882G>A (hg19) ; chr9:g.99221600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221600G>A , CM000671.2:g.99221600G>A	GRCh38
NC_000009.11:g.101983882G>A , CM000671.1:g.101983882G>A	GRCh37
NC_000009.10:g.101023703G>A	NCBI36
NG_008928.1:g.5365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.295C>T MANE Select	ENSP00000417764.1:p.Leu99Phe
ENST00000238477.5:c.295C>T	ENSP00000432675.2:p.Leu99Phe
ENST00000476832.1:c.295C>T	ENSP00000417764.1:p.Leu99Phe
NM_033087.3:c.295C>T	NP_149078.1:p.Leu99Phe
NR_024532.1:n.365C>T
NM_033087.4:c.295C>T MANE Select	NP_149078.1:p.Leu99Phe
NR_024532.2:n.343C>T