Canonical Allele Identifier: CA223762

Gene: ALG9

Linked Data

• ClinVar Variation Id: 96135
• ClinVar RCV Id: RCV000082208 ; RCV000764952 ; RCV001331340 ; RCV000844763 ; RCV002251972
• dbSNP Id: rs36111204
• ExAC: 11:111728332 C / G
• gnomAD v2: 11-111728332-C-G
• gnomAD v3: 11-111857609-C-G
• gnomAD v4: 11-111857609-C-G
• MyVariant Identifiers: chr11:g.111728332C>G (hg19) ; chr11:g.111857609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111857609C>G , CM000673.2:g.111857609C>G	GRCh38
NC_000011.9:g.111728332C>G , CM000673.1:g.111728332C>G	GRCh37
NC_000011.8:g.111233542C>G	NCBI36
NG_009210.1:g.18973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.694G>C MANE Select	ENSP00000482437.1:p.Ala232Pro
ENST00000398006.6:c.181G>C	ENSP00000381090.2:p.Ala61Pro
ENST00000527714.5:n.336G>C
ENST00000530851.6:n.424G>C
ENST00000531154.5:c.181G>C	ENSP00000435517.1:p.Ala61Pro
ENST00000612489.1:c.*293G>C	ENSP00000478246.1:n.*293G>C
ENST00000613181.4:c.*116G>C	ENSP00000479335.1:n.*116G>C
ENST00000614444.4:c.694G>C	ENSP00000484200.1:p.Ala232Pro
ENST00000616540.4:c.694G>C	ENSP00000482437.1:p.Ala232Pro
ENST00000618252.1:c.565+2938G>C	ENSP00000482975.1:n.565+2938G>C
ENST00000619129.4:c.*246G>C	ENSP00000480661.1:n.*246G>C
ENST00000622211.4:c.1393G>C	ENSP00000482396.1:p.Ala465Pro
NM_001077690.1:c.694G>C	NP_001071158.1:p.Ala232Pro
NM_001077691.1:c.181G>C	NP_001071159.1:p.Ala61Pro
NM_001077692.1:c.181G>C	NP_001071160.1:p.Ala61Pro
NM_024740.2:c.694G>C MANE Select	NP_079016.2:p.Ala232Pro
XM_005277723.3:c.694G>C	XP_005277780.1:p.Ala232Pro
XM_005277724.3:c.694G>C	XP_005277781.1:p.Ala232Pro
XM_006718913.2:c.694G>C	XP_006718976.1:p.Ala232Pro
XM_011542990.1:c.694G>C	XP_011541292.1:p.Ala232Pro
XM_011542991.1:c.694G>C	XP_011541293.1:p.Ala232Pro
XM_011542992.1:c.694G>C	XP_011541294.1:p.Ala232Pro
XM_011542993.1:c.181G>C	XP_011541295.1:p.Ala61Pro
XM_011542994.1:c.181G>C	XP_011541296.1:p.Ala61Pro
XM_011542995.1:c.181G>C	XP_011541297.1:p.Ala61Pro
XM_011542996.1:c.181G>C	XP_011541298.1:p.Ala61Pro
XM_011542997.1:c.106G>C	XP_011541299.1:p.Ala36Pro
XR_947863.1:n.793G>C
XR_947864.1:n.793G>C
XR_947865.1:n.793G>C
NM_001352409.1:c.181G>C	NP_001339338.1:p.Ala61Pro
NM_001352410.1:c.181G>C	NP_001339339.1:p.Ala61Pro
NM_001352411.1:c.181G>C	NP_001339340.1:p.Ala61Pro
NM_001352412.1:c.181G>C	NP_001339341.1:p.Ala61Pro
NM_001352413.1:c.181G>C	NP_001339342.1:p.Ala61Pro
NM_001352414.1:c.181G>C	NP_001339343.1:p.Ala61Pro
NM_001352415.1:c.181G>C	NP_001339344.1:p.Ala61Pro
NM_001352416.1:c.181G>C	NP_001339345.1:p.Ala61Pro
NM_001352417.1:c.694G>C	NP_001339346.1:p.Ala232Pro
NM_001352418.1:c.694G>C	NP_001339347.1:p.Ala232Pro
NM_001352419.1:c.181G>C	NP_001339348.1:p.Ala61Pro
NM_001352420.1:c.181G>C	NP_001339349.1:p.Ala61Pro
NM_001352421.1:c.181G>C	NP_001339350.1:p.Ala61Pro
NM_001352422.1:c.106G>C	NP_001339351.1:p.Ala36Pro
NM_001352423.1:c.181G>C	NP_001339352.1:p.Ala61Pro
NR_147984.1:n.1070G>C
XM_005277723.5:c.694G>C	XP_005277780.1:p.Ala232Pro
XM_006718913.3:c.694G>C	XP_006718976.1:p.Ala232Pro
XM_011542992.2:c.694G>C	XP_011541294.1:p.Ala232Pro
XM_017018313.2:c.694G>C	XP_016873802.1:p.Ala232Pro
XM_017018314.2:c.694G>C	XP_016873803.1:p.Ala232Pro
XM_024448695.1:c.694G>C	XP_024304463.1:p.Ala232Pro
XR_001747967.2:n.782G>C
XR_001747968.2:n.782G>C
XR_001747969.2:n.782G>C
XR_001747970.2:n.782G>C
XR_001747971.1:n.1090G>C
XR_001747972.1:n.1094G>C
XR_001747973.1:n.797G>C
XR_001747974.1:n.910G>C
XR_001747975.1:n.1090G>C
XR_001747976.1:n.1094G>C
XR_001747977.1:n.246G>C
XR_001747979.1:n.1070G>C
XR_001747980.1:n.766G>C
XR_947863.3:n.782G>C
XR_947864.2:n.782G>C
XR_947865.2:n.782G>C
NM_001077691.2:c.181G>C	NP_001071159.1:p.Ala61Pro
NM_001077692.2:c.181G>C	NP_001071160.1:p.Ala61Pro
NM_001352411.2:c.181G>C	NP_001339340.1:p.Ala61Pro
NM_001352412.2:c.181G>C	NP_001339341.1:p.Ala61Pro
NM_001352414.2:c.181G>C	NP_001339343.1:p.Ala61Pro
NM_001352420.2:c.181G>C	NP_001339349.1:p.Ala61Pro
NM_001352421.2:c.181G>C	NP_001339350.1:p.Ala61Pro
NM_001352422.2:c.106G>C	NP_001339351.1:p.Ala36Pro
NM_001352423.2:c.181G>C	NP_001339352.1:p.Ala61Pro
NR_147984.2:n.1090G>C