Canonical Allele Identifier: CA10637172

Gene: ALG9

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111785177G>A , CM000673.2:g.111785177G>A	GRCh38
NC_000011.9:g.111655901G>A , CM000673.1:g.111655901G>A	GRCh37
NC_000011.8:g.111161111G>A	NCBI36
NG_009210.1:g.91404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.*1220C>T MANE Select	ENSP00000482437.1:n.*1220C>T
ENST00000532425.6:c.1503C>T
NM_001077690.1:c.*1220C>T	NP_001071158.1:n.*1220C>T
NM_001077691.1:c.*1220C>T	NP_001071159.1:n.*1220C>T
NM_001077692.1:c.*1220C>T	NP_001071160.1:n.*1220C>T
NM_024740.2:c.*1220C>T MANE Select	NP_079016.2:n.*1220C>T
XM_005277723.3:c.*880C>T	XP_005277780.1:n.*880C>T
XM_005277724.3:c.*880C>T	XP_005277781.1:n.*880C>T
NM_001352409.1:c.*1220C>T	NP_001339338.1:n.*1220C>T
NM_001352410.1:c.*1220C>T	NP_001339339.1:n.*1220C>T
NM_001352411.1:c.*1220C>T	NP_001339340.1:n.*1220C>T
NM_001352412.1:c.*1220C>T	NP_001339341.1:n.*1220C>T
NM_001352413.1:c.*1220C>T	NP_001339342.1:n.*1220C>T
NM_001352414.1:c.*1220C>T	NP_001339343.1:n.*1220C>T
NM_001352415.1:c.*880C>T	NP_001339344.1:n.*880C>T
NM_001352416.1:c.*880C>T	NP_001339345.1:n.*880C>T
NM_001352417.1:c.*880C>T	NP_001339346.1:n.*880C>T
NM_001352418.1:c.*1220C>T	NP_001339347.1:n.*1220C>T
NM_001352419.1:c.*880C>T	NP_001339348.1:n.*880C>T
NM_001352420.1:c.*1349C>T	NP_001339349.1:n.*1349C>T
NM_001352421.1:c.*1343C>T	NP_001339350.1:n.*1343C>T
NM_001352422.1:c.*1220C>T	NP_001339351.1:n.*1220C>T
NM_001352423.1:c.*1220C>T	NP_001339352.1:n.*1220C>T
NR_147984.1:n.3675C>T
XM_005277723.5:c.*880C>T	XP_005277780.1:n.*880C>T
XM_017018314.2:c.*1220C>T	XP_016873803.1:n.*1220C>T
XR_001747967.2:n.2246+612C>T
XR_001747968.2:n.2225+612C>T
XR_001747969.2:n.2123+612C>T
XR_001747971.1:n.2554+612C>T
XR_001747972.1:n.2558+612C>T
XR_001747973.1:n.2261+612C>T
XR_001747974.1:n.2374+612C>T
XR_001747975.1:n.2533+612C>T
XR_001747976.1:n.2537+612C>T
XR_001747977.1:n.1710+612C>T
NM_001077691.2:c.*1220C>T	NP_001071159.1:n.*1220C>T
NM_001077692.2:c.*1220C>T	NP_001071160.1:n.*1220C>T
NM_001352411.2:c.*1220C>T	NP_001339340.1:n.*1220C>T
NM_001352412.2:c.*1220C>T	NP_001339341.1:n.*1220C>T
NM_001352414.2:c.*1220C>T	NP_001339343.1:n.*1220C>T
NM_001352420.2:c.*1349C>T	NP_001339349.1:n.*1349C>T
NM_001352421.2:c.*1343C>T	NP_001339350.1:n.*1343C>T
NM_001352422.2:c.*1220C>T	NP_001339351.1:n.*1220C>T
NM_001352423.2:c.*1220C>T	NP_001339352.1:n.*1220C>T
NR_147984.2:n.3695C>T