Canonical Allele Identifier: CA382608040

Gene: ALG9

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111857708T>A , CM000673.2:g.111857708T>A	GRCh38
NC_000011.9:g.111728431T>A , CM000673.1:g.111728431T>A	GRCh37
NC_000011.8:g.111233641T>A	NCBI36
NG_009210.1:g.18874A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.595A>T MANE Select	ENSP00000482437.1:p.Thr199Ser
ENST00000398006.6:c.82A>T	ENSP00000381090.2:p.Thr28Ser
ENST00000527714.5:n.237A>T
ENST00000530851.6:n.325A>T
ENST00000531154.5:c.82A>T	ENSP00000435517.1:p.Thr28Ser
ENST00000612489.1:c.*194A>T	ENSP00000478246.1:n.*194A>T
ENST00000613181.4:c.*17A>T	ENSP00000479335.1:n.*17A>T
ENST00000614444.4:c.595A>T	ENSP00000484200.1:p.Thr199Ser
ENST00000616540.4:c.595A>T	ENSP00000482437.1:p.Thr199Ser
ENST00000618252.1:c.565+2839A>T	ENSP00000482975.1:n.565+2839A>T
ENST00000619129.4:c.*147A>T	ENSP00000480661.1:n.*147A>T
ENST00000622211.4:c.1294A>T	ENSP00000482396.1:p.Thr432Ser
NM_001077690.1:c.595A>T	NP_001071158.1:p.Thr199Ser
NM_001077691.1:c.82A>T	NP_001071159.1:p.Thr28Ser
NM_001077692.1:c.82A>T	NP_001071160.1:p.Thr28Ser
NM_024740.2:c.595A>T MANE Select	NP_079016.2:p.Thr199Ser
XM_005277723.3:c.595A>T	XP_005277780.1:p.Thr199Ser
XM_005277724.3:c.595A>T	XP_005277781.1:p.Thr199Ser
XM_006718913.2:c.595A>T	XP_006718976.1:p.Thr199Ser
XM_011542990.1:c.595A>T	XP_011541292.1:p.Thr199Ser
XM_011542991.1:c.595A>T	XP_011541293.1:p.Thr199Ser
XM_011542992.1:c.595A>T	XP_011541294.1:p.Thr199Ser
XM_011542993.1:c.82A>T	XP_011541295.1:p.Thr28Ser
XM_011542994.1:c.82A>T	XP_011541296.1:p.Thr28Ser
XM_011542995.1:c.82A>T	XP_011541297.1:p.Thr28Ser
XM_011542996.1:c.82A>T	XP_011541298.1:p.Thr28Ser
XM_011542997.1:c.7A>T	XP_011541299.1:p.Thr3Ser
XR_947863.1:n.694A>T
XR_947864.1:n.694A>T
XR_947865.1:n.694A>T
NM_001352409.1:c.82A>T	NP_001339338.1:p.Thr28Ser
NM_001352410.1:c.82A>T	NP_001339339.1:p.Thr28Ser
NM_001352411.1:c.82A>T	NP_001339340.1:p.Thr28Ser
NM_001352412.1:c.82A>T	NP_001339341.1:p.Thr28Ser
NM_001352413.1:c.82A>T	NP_001339342.1:p.Thr28Ser
NM_001352414.1:c.82A>T	NP_001339343.1:p.Thr28Ser
NM_001352415.1:c.82A>T	NP_001339344.1:p.Thr28Ser
NM_001352416.1:c.82A>T	NP_001339345.1:p.Thr28Ser
NM_001352417.1:c.595A>T	NP_001339346.1:p.Thr199Ser
NM_001352418.1:c.595A>T	NP_001339347.1:p.Thr199Ser
NM_001352419.1:c.82A>T	NP_001339348.1:p.Thr28Ser
NM_001352420.1:c.82A>T	NP_001339349.1:p.Thr28Ser
NM_001352421.1:c.82A>T	NP_001339350.1:p.Thr28Ser
NM_001352422.1:c.7A>T	NP_001339351.1:p.Thr3Ser
NM_001352423.1:c.82A>T	NP_001339352.1:p.Thr28Ser
NR_147984.1:n.971A>T
XM_005277723.5:c.595A>T	XP_005277780.1:p.Thr199Ser
XM_006718913.3:c.595A>T	XP_006718976.1:p.Thr199Ser
XM_011542992.2:c.595A>T	XP_011541294.1:p.Thr199Ser
XM_017018313.2:c.595A>T	XP_016873802.1:p.Thr199Ser
XM_017018314.2:c.595A>T	XP_016873803.1:p.Thr199Ser
XM_024448695.1:c.595A>T	XP_024304463.1:p.Thr199Ser
XR_001747967.2:n.683A>T
XR_001747968.2:n.683A>T
XR_001747969.2:n.683A>T
XR_001747970.2:n.683A>T
XR_001747971.1:n.991A>T
XR_001747972.1:n.995A>T
XR_001747973.1:n.698A>T
XR_001747974.1:n.811A>T
XR_001747975.1:n.991A>T
XR_001747976.1:n.995A>T
XR_001747977.1:n.147A>T
XR_001747979.1:n.971A>T
XR_001747980.1:n.667A>T
XR_947863.3:n.683A>T
XR_947864.2:n.683A>T
XR_947865.2:n.683A>T
NM_001077691.2:c.82A>T	NP_001071159.1:p.Thr28Ser
NM_001077692.2:c.82A>T	NP_001071160.1:p.Thr28Ser
NM_001352411.2:c.82A>T	NP_001339340.1:p.Thr28Ser
NM_001352412.2:c.82A>T	NP_001339341.1:p.Thr28Ser
NM_001352414.2:c.82A>T	NP_001339343.1:p.Thr28Ser
NM_001352420.2:c.82A>T	NP_001339349.1:p.Thr28Ser
NM_001352421.2:c.82A>T	NP_001339350.1:p.Thr28Ser
NM_001352422.2:c.7A>T	NP_001339351.1:p.Thr3Ser
NM_001352423.2:c.82A>T	NP_001339352.1:p.Thr28Ser
NR_147984.2:n.991A>T