Canonical Allele Identifier: CA382616367

Gene: ALG9

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111871351C>G , CM000673.2:g.111871351C>G	GRCh38
NC_000011.8:g.111247284C>G	NCBI36
NG_009210.1:g.5231G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024740.2:c.131+1G>C MANE Select	NP_079016.2:n.131+1G>C
ENST00000616540.5:c.131+1G>C MANE Select	ENSP00000482437.1:n.131+1G>C
NM_001077690.1:c.131+1G>C	NP_001071158.1:n.131+1G>C
NM_001352409.1:c.-244+1G>C	NP_001339338.1:n.-244+1G>C
NM_001352410.1:c.-387+1G>C	NP_001339339.1:n.-387+1G>C
NM_001352413.1:c.-387+1G>C	NP_001339342.1:n.-387+1G>C
NM_001352417.1:c.131+1G>C	NP_001339346.1:n.131+1G>C
NM_001352418.1:c.131+1G>C	NP_001339347.1:n.131+1G>C
ENST00000526587.2:c.88-981G>C
ENST00000542429.2:c.741+1G>C
ENST00000612489.1:c.131+1G>C	ENSP00000478246.1:n.131+1G>C
ENST00000613181.4:c.131+1G>C	ENSP00000479335.1:n.131+1G>C
ENST00000614444.4:c.131+1G>C	ENSP00000484200.1:n.131+1G>C
ENST00000616540.4:c.131+1G>C	ENSP00000482437.1:n.131+1G>C
ENST00000618252.1:c.131+1G>C	ENSP00000482975.1:n.131+1G>C
ENST00000619129.4:c.131+1G>C	ENSP00000480661.1:n.131+1G>C
ENST00000622211.4:c.830+1G>C	ENSP00000482396.1:n.830+1G>C
XM_005277723.3:c.131+1G>C	XP_005277780.1:n.131+1G>C
XM_005277723.5:c.131+1G>C	XP_005277780.1:n.131+1G>C
XM_005277724.3:c.131+1G>C	XP_005277781.1:n.131+1G>C
XM_006718913.2:c.131+1G>C	XP_006718976.1:n.131+1G>C
XM_006718913.3:c.131+1G>C	XP_006718976.1:n.131+1G>C
XM_011542990.1:c.131+1G>C	XP_011541292.1:n.131+1G>C
XM_011542991.1:c.131+1G>C	XP_011541293.1:n.131+1G>C
XM_011542992.1:c.131+1G>C	XP_011541294.1:n.131+1G>C
XM_011542992.2:c.131+1G>C	XP_011541294.1:n.131+1G>C
XM_011542995.1:c.-387+1G>C	XP_011541297.1:n.-387+1G>C
XM_017018313.2:c.131+1G>C	XP_016873802.1:n.131+1G>C
XM_017018314.2:c.131+1G>C	XP_016873803.1:n.131+1G>C
XM_024448695.1:c.131+1G>C	XP_024304463.1:n.131+1G>C
XR_001747967.2:n.219+1G>C
XR_001747968.2:n.219+1G>C
XR_001747969.2:n.219+1G>C
XR_001747970.2:n.219+1G>C
XR_001747973.1:n.230+1G>C
XR_001747980.1:n.199+1G>C
XR_947863.1:n.230+1G>C
XR_947863.3:n.219+1G>C
XR_947864.1:n.230+1G>C
XR_947864.2:n.219+1G>C
XR_947865.1:n.230+1G>C
XR_947865.2:n.219+1G>C