Canonical Allele Identifier: CA6274278

Gene: ALG9

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111786083C>T , CM000673.2:g.111786083C>T	GRCh38
NC_000011.9:g.111656807C>T , CM000673.1:g.111656807C>T	GRCh37
NC_000011.8:g.111162017C>T	NCBI36
NG_009210.1:g.90498G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024740.2:c.*314G>A MANE Select	NP_079016.2:n.*314G>A
ENST00000616540.5:c.*314G>A MANE Select	ENSP00000482437.1:n.*314G>A
NM_001077690.1:c.*314G>A	NP_001071158.1:n.*314G>A
NM_001077691.1:c.*314G>A	NP_001071159.1:n.*314G>A
NM_001077691.2:c.*314G>A	NP_001071159.1:n.*314G>A
NM_001077692.1:c.*314G>A	NP_001071160.1:n.*314G>A
NM_001077692.2:c.*314G>A	NP_001071160.1:n.*314G>A
NM_001352409.1:c.*314G>A	NP_001339338.1:n.*314G>A
NM_001352410.1:c.*314G>A	NP_001339339.1:n.*314G>A
NM_001352411.1:c.*314G>A	NP_001339340.1:n.*314G>A
NM_001352411.2:c.*314G>A	NP_001339340.1:n.*314G>A
NM_001352412.1:c.*314G>A	NP_001339341.1:n.*314G>A
NM_001352412.2:c.*314G>A	NP_001339341.1:n.*314G>A
NM_001352413.1:c.*314G>A	NP_001339342.1:n.*314G>A
NM_001352414.1:c.*314G>A	NP_001339343.1:n.*314G>A
NM_001352414.2:c.*314G>A	NP_001339343.1:n.*314G>A
NM_001352415.1:c.1330G>A	NP_001339344.1:p.Ala444Thr
NM_001352416.1:c.1330G>A	NP_001339345.1:p.Ala444Thr
NM_001352417.1:c.1843G>A	NP_001339346.1:p.Ala615Thr
NM_001352418.1:c.*314G>A	NP_001339347.1:n.*314G>A
NM_001352419.1:c.1351G>A	NP_001339348.1:p.Ala451Thr
NM_001352420.1:c.*443G>A	NP_001339349.1:n.*443G>A
NM_001352420.2:c.*443G>A	NP_001339349.1:n.*443G>A
NM_001352421.1:c.*437G>A	NP_001339350.1:n.*437G>A
NM_001352421.2:c.*437G>A	NP_001339350.1:n.*437G>A
NM_001352422.1:c.*314G>A	NP_001339351.1:n.*314G>A
NM_001352422.2:c.*314G>A	NP_001339351.1:n.*314G>A
NM_001352423.1:c.*314G>A	NP_001339352.1:n.*314G>A
NM_001352423.2:c.*314G>A	NP_001339352.1:n.*314G>A
NR_147984.1:n.2769G>A
NR_147984.2:n.2789G>A
ENST00000532425.6:c.597G>A
XM_005277723.3:c.1864G>A	XP_005277780.1:p.Ala622Thr
XM_005277723.5:c.1864G>A	XP_005277780.1:p.Ala622Thr
XM_005277724.3:c.1843G>A	XP_005277781.1:p.Ala615Thr
XM_017018314.2:c.*314G>A	XP_016873803.1:n.*314G>A
XR_001747967.2:n.1952G>A
XR_001747968.2:n.1931G>A
XR_001747969.2:n.1829G>A
XR_001747971.1:n.2260G>A
XR_001747972.1:n.2264G>A
XR_001747973.1:n.1967G>A
XR_001747974.1:n.2080G>A
XR_001747975.1:n.2239G>A
XR_001747976.1:n.2243G>A
XR_001747977.1:n.1416G>A