Canonical Allele Identifier: CA228540258

Gene: ALG9

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111838591G>A , CM000673.2:g.111838591G>A	GRCh38
NC_000011.9:g.111709314G>A , CM000673.1:g.111709314G>A	GRCh37
NC_000011.8:g.111214524G>A	NCBI36
NG_009210.1:g.37991C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024740.2:c.1174-192C>T MANE Select	NP_079016.2:n.1174-192C>T
ENST00000616540.5:c.1174-192C>T MANE Select	ENSP00000482437.1:n.1174-192C>T
NM_001077690.1:c.1174-213C>T	NP_001071158.1:n.1174-213C>T
NM_001077691.1:c.661-192C>T	NP_001071159.1:n.661-192C>T
NM_001077691.2:c.661-192C>T	NP_001071159.1:n.661-192C>T
NM_001077692.1:c.661-213C>T	NP_001071160.1:n.661-213C>T
NM_001077692.2:c.661-213C>T	NP_001071160.1:n.661-213C>T
NM_001352409.1:c.661-213C>T	NP_001339338.1:n.661-213C>T
NM_001352410.1:c.661-213C>T	NP_001339339.1:n.661-213C>T
NM_001352411.1:c.661-213C>T	NP_001339340.1:n.661-213C>T
NM_001352411.2:c.661-213C>T	NP_001339340.1:n.661-213C>T
NM_001352412.1:c.661-213C>T	NP_001339341.1:n.661-213C>T
NM_001352412.2:c.661-213C>T	NP_001339341.1:n.661-213C>T
NM_001352413.1:c.661-192C>T	NP_001339342.1:n.661-192C>T
NM_001352414.1:c.661-192C>T	NP_001339343.1:n.661-192C>T
NM_001352414.2:c.661-192C>T	NP_001339343.1:n.661-192C>T
NM_001352415.1:c.661-213C>T	NP_001339344.1:n.661-213C>T
NM_001352416.1:c.661-213C>T	NP_001339345.1:n.661-213C>T
NM_001352417.1:c.1174-213C>T	NP_001339346.1:n.1174-213C>T
NM_001352418.1:c.1051-213C>T	NP_001339347.1:n.1051-213C>T
NM_001352419.1:c.661-192C>T	NP_001339348.1:n.661-192C>T
NM_001352420.1:c.661-213C>T	NP_001339349.1:n.661-213C>T
NM_001352420.2:c.661-213C>T	NP_001339349.1:n.661-213C>T
NM_001352421.1:c.661-213C>T	NP_001339350.1:n.661-213C>T
NM_001352421.2:c.661-213C>T	NP_001339350.1:n.661-213C>T
NM_001352422.1:c.586-213C>T	NP_001339351.1:n.586-213C>T
NM_001352422.2:c.586-213C>T	NP_001339351.1:n.586-213C>T
NM_001352423.1:c.538-213C>T	NP_001339352.1:n.538-213C>T
NM_001352423.2:c.538-213C>T	NP_001339352.1:n.538-213C>T
NR_147984.1:n.1550-192C>T
NR_147984.2:n.1570-192C>T
ENST00000398006.6:c.661-213C>T	ENSP00000381090.2:n.661-213C>T
ENST00000527294.5:n.492-213C>T
ENST00000530851.6:n.537+14789C>T
ENST00000531154.5:c.661-192C>T	ENSP00000435517.1:n.661-192C>T
ENST00000613181.4:c.*596-213C>T	ENSP00000479335.1:n.*596-213C>T
ENST00000614444.4:c.1174-213C>T	ENSP00000484200.1:n.1174-213C>T
ENST00000616540.4:c.1174-192C>T	ENSP00000482437.1:n.1174-192C>T
ENST00000619129.4:c.*726-213C>T	ENSP00000480661.1:n.*726-213C>T
ENST00000622211.4:c.1873-213C>T	ENSP00000482396.1:n.1873-213C>T
XM_005277723.3:c.1174-192C>T	XP_005277780.1:n.1174-192C>T
XM_005277723.5:c.1174-192C>T	XP_005277780.1:n.1174-192C>T
XM_005277724.3:c.1174-213C>T	XP_005277781.1:n.1174-213C>T
XM_006718913.2:c.1174-192C>T	XP_006718976.1:n.1174-192C>T
XM_006718913.3:c.1174-192C>T	XP_006718976.1:n.1174-192C>T
XM_011542990.1:c.1174-192C>T	XP_011541292.1:n.1174-192C>T
XM_011542991.1:c.1174-213C>T	XP_011541293.1:n.1174-213C>T
XM_011542992.1:c.1174-192C>T	XP_011541294.1:n.1174-192C>T
XM_011542992.2:c.1174-192C>T	XP_011541294.1:n.1174-192C>T
XM_011542993.1:c.661-192C>T	XP_011541295.1:n.661-192C>T
XM_011542994.1:c.661-192C>T	XP_011541296.1:n.661-192C>T
XM_011542995.1:c.661-192C>T	XP_011541297.1:n.661-192C>T
XM_011542996.1:c.661-192C>T	XP_011541298.1:n.661-192C>T
XM_011542997.1:c.586-192C>T	XP_011541299.1:n.586-192C>T
XM_017018313.2:c.1174-213C>T	XP_016873802.1:n.1174-213C>T
XM_017018314.2:c.1051-192C>T	XP_016873803.1:n.1051-192C>T
XM_024448695.1:c.1174-213C>T	XP_024304463.1:n.1174-213C>T
XR_001747967.2:n.1262-192C>T
XR_001747968.2:n.1262-213C>T
XR_001747969.2:n.1139-192C>T
XR_001747970.2:n.1262-213C>T
XR_001747971.1:n.1570-192C>T
XR_001747972.1:n.1574-192C>T
XR_001747973.1:n.1277-192C>T
XR_001747974.1:n.1390-192C>T
XR_001747975.1:n.1570-213C>T
XR_001747976.1:n.1574-213C>T
XR_001747977.1:n.726-192C>T
XR_001747979.1:n.1550-213C>T
XR_001747980.1:n.1246-213C>T
XR_947863.1:n.1273-192C>T
XR_947863.3:n.1262-192C>T
XR_947864.1:n.1118-213C>T
XR_947864.2:n.1107-213C>T
XR_947865.1:n.1118-213C>T
XR_947865.2:n.1107-213C>T