Canonical Allele Identifier: CA382597493

Gene: ALG9

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111840768T>A , CM000673.2:g.111840768T>A	GRCh38
NC_000011.9:g.111711491T>A , CM000673.1:g.111711491T>A	GRCh37
NC_000011.8:g.111216701T>A	NCBI36
NG_009210.1:g.35814A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.1060A>T MANE Select	ENSP00000482437.1:p.Met354Leu
ENST00000398006.6:c.547A>T	ENSP00000381090.2:p.Met183Leu
ENST00000527294.5:n.378A>T
ENST00000527714.5:n.702A>T
ENST00000530851.6:n.537+12612A>T
ENST00000531154.5:c.547A>T	ENSP00000435517.1:p.Met183Leu
ENST00000613181.4:c.*482A>T	ENSP00000479335.1:n.*482A>T
ENST00000614444.4:c.1060A>T	ENSP00000484200.1:p.Met354Leu
ENST00000616540.4:c.1060A>T	ENSP00000482437.1:p.Met354Leu
ENST00000619129.4:c.*612A>T	ENSP00000480661.1:n.*612A>T
ENST00000622211.4:c.1759A>T	ENSP00000482396.1:p.Met587Leu
NM_001077690.1:c.1060A>T	NP_001071158.1:p.Met354Leu
NM_001077691.1:c.547A>T	NP_001071159.1:p.Met183Leu
NM_001077692.1:c.547A>T	NP_001071160.1:p.Met183Leu
NM_024740.2:c.1060A>T MANE Select	NP_079016.2:p.Met354Leu
XM_005277723.3:c.1060A>T	XP_005277780.1:p.Met354Leu
XM_005277724.3:c.1060A>T	XP_005277781.1:p.Met354Leu
XM_006718913.2:c.1060A>T	XP_006718976.1:p.Met354Leu
XM_011542990.1:c.1060A>T	XP_011541292.1:p.Met354Leu
XM_011542991.1:c.1060A>T	XP_011541293.1:p.Met354Leu
XM_011542992.1:c.1060A>T	XP_011541294.1:p.Met354Leu
XM_011542993.1:c.547A>T	XP_011541295.1:p.Met183Leu
XM_011542994.1:c.547A>T	XP_011541296.1:p.Met183Leu
XM_011542995.1:c.547A>T	XP_011541297.1:p.Met183Leu
XM_011542996.1:c.547A>T	XP_011541298.1:p.Met183Leu
XM_011542997.1:c.472A>T	XP_011541299.1:p.Met158Leu
XR_947863.1:n.1159A>T
XR_947864.1:n.1118-2390A>T
XR_947865.1:n.1118-2390A>T
NM_001352409.1:c.547A>T	NP_001339338.1:p.Met183Leu
NM_001352410.1:c.547A>T	NP_001339339.1:p.Met183Leu
NM_001352411.1:c.547A>T	NP_001339340.1:p.Met183Leu
NM_001352412.1:c.547A>T	NP_001339341.1:p.Met183Leu
NM_001352413.1:c.547A>T	NP_001339342.1:p.Met183Leu
NM_001352414.1:c.547A>T	NP_001339343.1:p.Met183Leu
NM_001352415.1:c.547A>T	NP_001339344.1:p.Met183Leu
NM_001352416.1:c.547A>T	NP_001339345.1:p.Met183Leu
NM_001352417.1:c.1060A>T	NP_001339346.1:p.Met354Leu
NM_001352418.1:c.937A>T	NP_001339347.1:p.Met313Leu
NM_001352419.1:c.547A>T	NP_001339348.1:p.Met183Leu
NM_001352420.1:c.547A>T	NP_001339349.1:p.Met183Leu
NM_001352421.1:c.547A>T	NP_001339350.1:p.Met183Leu
NM_001352422.1:c.472A>T	NP_001339351.1:p.Met158Leu
NM_001352423.1:c.424A>T	NP_001339352.1:p.Met142Leu
NR_147984.1:n.1436A>T
XM_005277723.5:c.1060A>T	XP_005277780.1:p.Met354Leu
XM_006718913.3:c.1060A>T	XP_006718976.1:p.Met354Leu
XM_011542992.2:c.1060A>T	XP_011541294.1:p.Met354Leu
XM_017018313.2:c.1060A>T	XP_016873802.1:p.Met354Leu
XM_017018314.2:c.937A>T	XP_016873803.1:p.Met313Leu
XM_024448695.1:c.1060A>T	XP_024304463.1:p.Met354Leu
XR_001747967.2:n.1148A>T
XR_001747968.2:n.1148A>T
XR_001747969.2:n.1025A>T
XR_001747970.2:n.1148A>T
XR_001747971.1:n.1456A>T
XR_001747972.1:n.1460A>T
XR_001747973.1:n.1163A>T
XR_001747974.1:n.1276A>T
XR_001747975.1:n.1456A>T
XR_001747976.1:n.1460A>T
XR_001747977.1:n.612A>T
XR_001747979.1:n.1436A>T
XR_001747980.1:n.1132A>T
XR_947863.3:n.1148A>T
XR_947864.2:n.1107-2390A>T
XR_947865.2:n.1107-2390A>T
NM_001077691.2:c.547A>T	NP_001071159.1:p.Met183Leu
NM_001077692.2:c.547A>T	NP_001071160.1:p.Met183Leu
NM_001352411.2:c.547A>T	NP_001339340.1:p.Met183Leu
NM_001352412.2:c.547A>T	NP_001339341.1:p.Met183Leu
NM_001352414.2:c.547A>T	NP_001339343.1:p.Met183Leu
NM_001352420.2:c.547A>T	NP_001339349.1:p.Met183Leu
NM_001352421.2:c.547A>T	NP_001339350.1:p.Met183Leu
NM_001352422.2:c.472A>T	NP_001339351.1:p.Met158Leu
NM_001352423.2:c.424A>T	NP_001339352.1:p.Met142Leu
NR_147984.2:n.1456A>T