Canonical Allele Identifier: CA1139662338

Gene: ALG9

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111783749C>T , CM000673.2:g.111783749C>T	GRCh38
NC_000011.9:g.111654473C>T , CM000673.1:g.111654473C>T	GRCh37
NC_000011.8:g.111159683C>T	NCBI36
NG_009210.1:g.92832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.*2648G>A MANE Select	ENSP00000482437.1:n.*2648G>A
ENST00000532425.6:c.2931G>A
NM_001077690.1:c.*2648G>A	NP_001071158.1:n.*2648G>A
NM_001077691.1:c.*2648G>A	NP_001071159.1:n.*2648G>A
NM_001077692.1:c.*2648G>A	NP_001071160.1:n.*2648G>A
NM_024740.2:c.*2648G>A MANE Select	NP_079016.2:n.*2648G>A
NM_001352409.1:c.*2648G>A	NP_001339338.1:n.*2648G>A
NM_001352410.1:c.*2648G>A	NP_001339339.1:n.*2648G>A
NM_001352411.1:c.*2648G>A	NP_001339340.1:n.*2648G>A
NM_001352412.1:c.*2648G>A	NP_001339341.1:n.*2648G>A
NM_001352413.1:c.*2648G>A	NP_001339342.1:n.*2648G>A
NM_001352414.1:c.*2648G>A	NP_001339343.1:n.*2648G>A
NM_001352415.1:c.*2308G>A	NP_001339344.1:n.*2308G>A
NM_001352416.1:c.*2308G>A	NP_001339345.1:n.*2308G>A
NM_001352417.1:c.*2308G>A	NP_001339346.1:n.*2308G>A
NM_001352418.1:c.*2648G>A	NP_001339347.1:n.*2648G>A
NM_001352419.1:c.*2308G>A	NP_001339348.1:n.*2308G>A
NM_001352420.1:c.*2777G>A	NP_001339349.1:n.*2777G>A
NM_001352421.1:c.*2771G>A	NP_001339350.1:n.*2771G>A
NM_001352422.1:c.*2648G>A	NP_001339351.1:n.*2648G>A
NM_001352423.1:c.*2648G>A	NP_001339352.1:n.*2648G>A
NR_147984.1:n.5103G>A
XM_005277723.5:c.*2308G>A	XP_005277780.1:n.*2308G>A
XM_017018314.2:c.*2648G>A	XP_016873803.1:n.*2648G>A
XR_001747967.2:n.2246+2040G>A
XR_001747968.2:n.2225+2040G>A
XR_001747969.2:n.2123+2040G>A
XR_001747971.1:n.2554+2040G>A
XR_001747972.1:n.2558+2040G>A
XR_001747973.1:n.2261+2040G>A
XR_001747974.1:n.2374+2040G>A
XR_001747975.1:n.2533+2040G>A
XR_001747976.1:n.2537+2040G>A
XR_001747977.1:n.1710+2040G>A
NM_001077691.2:c.*2648G>A	NP_001071159.1:n.*2648G>A
NM_001077692.2:c.*2648G>A	NP_001071160.1:n.*2648G>A
NM_001352411.2:c.*2648G>A	NP_001339340.1:n.*2648G>A
NM_001352412.2:c.*2648G>A	NP_001339341.1:n.*2648G>A
NM_001352414.2:c.*2648G>A	NP_001339343.1:n.*2648G>A
NM_001352420.2:c.*2777G>A	NP_001339349.1:n.*2777G>A
NM_001352421.2:c.*2771G>A	NP_001339350.1:n.*2771G>A
NM_001352422.2:c.*2648G>A	NP_001339351.1:n.*2648G>A
NM_001352423.2:c.*2648G>A	NP_001339352.1:n.*2648G>A
NR_147984.2:n.5123G>A