Canonical Allele Identifier: CA6274405

Gene: ALG9

Linked Data

• dbSNP Id: rs782412841
• ExAC: 11:111707005 C / T
• gnomAD v2: 11-111707005-C-T
• gnomAD v4: 11-111836282-C-T
• MyVariant Identifiers: chr11:g.111707005C>T (hg19) ; chr11:g.111836282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111836282C>T , CM000673.2:g.111836282C>T	GRCh38
NC_000011.9:g.111707005C>T , CM000673.1:g.111707005C>T	GRCh37
NC_000011.8:g.111212215C>T	NCBI36
NG_009210.1:g.40300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.1485G>A MANE Select	ENSP00000482437.1:p.Gln495=
ENST00000398006.6:c.951G>A	ENSP00000381090.2:p.Gln317=
ENST00000526272.5:n.49G>A
ENST00000530851.6:n.537+17098G>A
ENST00000531154.5:c.972G>A	ENSP00000435517.1:p.Gln324=
ENST00000532425.6:c.218G>A
ENST00000614444.4:c.1464G>A	ENSP00000484200.1:p.Gln488=
ENST00000616540.4:c.1485G>A	ENSP00000482437.1:p.Gln495=
ENST00000619129.4:c.*1016G>A	ENSP00000480661.1:n.*1016G>A
ENST00000622211.4:c.2163G>A	ENSP00000482396.1:p.Gln721=
NM_001077690.1:c.1464G>A	NP_001071158.1:p.Gln488=
NM_001077691.1:c.972G>A	NP_001071159.1:p.Gln324=
NM_001077692.1:c.951G>A	NP_001071160.1:p.Gln317=
NM_024740.2:c.1485G>A MANE Select	NP_079016.2:p.Gln495=
XM_005277723.3:c.1485G>A	XP_005277780.1:p.Gln495=
XM_005277724.3:c.1464G>A	XP_005277781.1:p.Gln488=
XM_006718913.2:c.1485G>A	XP_006718976.1:p.Gln495=
XM_011542990.1:c.1485G>A	XP_011541292.1:p.Gln495=
XM_011542991.1:c.1464G>A	XP_011541293.1:p.Gln488=
XM_011542992.1:c.1485G>A	XP_011541294.1:p.Gln495=
XM_011542993.1:c.972G>A	XP_011541295.1:p.Gln324=
XM_011542994.1:c.972G>A	XP_011541296.1:p.Gln324=
XM_011542995.1:c.972G>A	XP_011541297.1:p.Gln324=
XM_011542996.1:c.972G>A	XP_011541298.1:p.Gln324=
XM_011542997.1:c.897G>A	XP_011541299.1:p.Gln299=
XR_947863.1:n.1584G>A
XR_947864.1:n.1408G>A
XR_947865.1:n.1408G>A
NM_001352409.1:c.951G>A	NP_001339338.1:p.Gln317=
NM_001352410.1:c.951G>A	NP_001339339.1:p.Gln317=
NM_001352411.1:c.951G>A	NP_001339340.1:p.Gln317=
NM_001352412.1:c.951G>A	NP_001339341.1:p.Gln317=
NM_001352413.1:c.972G>A	NP_001339342.1:p.Gln324=
NM_001352414.1:c.972G>A	NP_001339343.1:p.Gln324=
NM_001352415.1:c.951G>A	NP_001339344.1:p.Gln317=
NM_001352416.1:c.951G>A	NP_001339345.1:p.Gln317=
NM_001352417.1:c.1464G>A	NP_001339346.1:p.Gln488=
NM_001352418.1:c.1341G>A	NP_001339347.1:p.Gln447=
NM_001352419.1:c.972G>A	NP_001339348.1:p.Gln324=
NM_001352420.1:c.951G>A	NP_001339349.1:p.Gln317=
NM_001352421.1:c.951G>A	NP_001339350.1:p.Gln317=
NM_001352422.1:c.876G>A	NP_001339351.1:p.Gln292=
NM_001352423.1:c.828G>A	NP_001339352.1:p.Gln276=
NR_147984.1:n.1861G>A
XM_005277723.5:c.1485G>A	XP_005277780.1:p.Gln495=
XM_006718913.3:c.1485G>A	XP_006718976.1:p.Gln495=
XM_011542992.2:c.1485G>A	XP_011541294.1:p.Gln495=
XM_017018313.2:c.1464G>A	XP_016873802.1:p.Gln488=
XM_017018314.2:c.1362G>A	XP_016873803.1:p.Gln454=
XM_024448695.1:c.1464G>A	XP_024304463.1:p.Gln488=
XR_001747967.2:n.1573G>A
XR_001747968.2:n.1552G>A
XR_001747969.2:n.1450G>A
XR_001747970.2:n.1552G>A
XR_001747971.1:n.1881G>A
XR_001747972.1:n.1885G>A
XR_001747973.1:n.1588G>A
XR_001747974.1:n.1701G>A
XR_001747975.1:n.1860G>A
XR_001747976.1:n.1864G>A
XR_001747977.1:n.1037G>A
XR_001747979.1:n.1840G>A
XR_001747980.1:n.1536G>A
XR_947863.3:n.1573G>A
XR_947864.2:n.1397G>A
XR_947865.2:n.1397G>A
NM_001077691.2:c.972G>A	NP_001071159.1:p.Gln324=
NM_001077692.2:c.951G>A	NP_001071160.1:p.Gln317=
NM_001352411.2:c.951G>A	NP_001339340.1:p.Gln317=
NM_001352412.2:c.951G>A	NP_001339341.1:p.Gln317=
NM_001352414.2:c.972G>A	NP_001339343.1:p.Gln324=
NM_001352420.2:c.951G>A	NP_001339349.1:p.Gln317=
NM_001352421.2:c.951G>A	NP_001339350.1:p.Gln317=
NM_001352422.2:c.876G>A	NP_001339351.1:p.Gln292=
NM_001352423.2:c.828G>A	NP_001339352.1:p.Gln276=
NR_147984.2:n.1881G>A