Canonical Allele Identifier: CA382616406
Community Standard Title: NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111871358C>G , CM000673.2:g.111871358C>G GRCh38
NC_000011.8:g.111247291C>G NCBI36
NG_009210.1:g.5224G>C

Transcript Alleles

HGVS Amino-acid Change
NM_024740.2:c.125G>C MANE Select NP_079016.2:p.Arg42Pro
ENST00000616540.5:c.125G>C MANE Select ENSP00000482437.1:p.Arg42Pro
NM_001077690.1:c.125G>C NP_001071158.1:p.Arg42Pro
NM_001352409.1:c.-250G>C NP_001339338.1:n.-250G>C
NM_001352410.1:c.-393G>C NP_001339339.1:n.-393G>C
NM_001352413.1:c.-393G>C NP_001339342.1:n.-393G>C
NM_001352417.1:c.125G>C NP_001339346.1:p.Arg42Pro
NM_001352418.1:c.125G>C NP_001339347.1:p.Arg42Pro
ENST00000526587.2:c.88-988G>C
ENST00000542429.2:c.735G>C
ENST00000612489.1:c.125G>C ENSP00000478246.1:p.Arg42Pro
ENST00000613181.4:c.125G>C ENSP00000479335.1:p.Arg42Pro
ENST00000614444.4:c.125G>C ENSP00000484200.1:p.Arg42Pro
ENST00000616540.4:c.125G>C ENSP00000482437.1:p.Arg42Pro
ENST00000618252.1:c.125G>C ENSP00000482975.1:p.Arg42Pro
ENST00000619129.4:c.125G>C ENSP00000480661.1:p.Arg42Pro
ENST00000622211.4:c.824G>C ENSP00000482396.1:p.Arg275Pro
XM_005277723.3:c.125G>C XP_005277780.1:p.Arg42Pro
XM_005277723.5:c.125G>C XP_005277780.1:p.Arg42Pro
XM_005277724.3:c.125G>C XP_005277781.1:p.Arg42Pro
XM_006718913.2:c.125G>C XP_006718976.1:p.Arg42Pro
XM_006718913.3:c.125G>C XP_006718976.1:p.Arg42Pro
XM_011542990.1:c.125G>C XP_011541292.1:p.Arg42Pro
XM_011542991.1:c.125G>C XP_011541293.1:p.Arg42Pro
XM_011542992.1:c.125G>C XP_011541294.1:p.Arg42Pro
XM_011542992.2:c.125G>C XP_011541294.1:p.Arg42Pro
XM_011542995.1:c.-393G>C XP_011541297.1:n.-393G>C
XM_017018313.2:c.125G>C XP_016873802.1:p.Arg42Pro
XM_017018314.2:c.125G>C XP_016873803.1:p.Arg42Pro
XM_024448695.1:c.125G>C XP_024304463.1:p.Arg42Pro
XR_001747967.2:n.213G>C
XR_001747968.2:n.213G>C
XR_001747969.2:n.213G>C
XR_001747970.2:n.213G>C
XR_001747973.1:n.224G>C
XR_001747980.1:n.193G>C
XR_947863.1:n.224G>C
XR_947863.3:n.213G>C
XR_947864.1:n.224G>C
XR_947864.2:n.213G>C
XR_947865.1:n.224G>C
XR_947865.2:n.213G>C