Canonical Allele Identifier: CA10633396

Gene: ALG9

Linked Data

• ClinVar Variation Id: 302367
• ClinVar RCV Id: RCV000380322
• dbSNP Id: rs541035545
• gnomAD v3: 11-111782256-C-G
• gnomAD v4: 11-111782256-C-G
• MyVariant Identifiers: chr11:g.111652980C>G (hg19) ; chr11:g.111782256C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111782256C>G , CM000673.2:g.111782256C>G	GRCh38
NC_000011.9:g.111652980C>G , CM000673.1:g.111652980C>G	GRCh37
NC_000011.8:g.111158190C>G	NCBI36
NG_009210.1:g.94325G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.*4141G>C MANE Select	ENSP00000482437.1:n.*4141G>C
ENST00000532425.6:c.4424G>C
NM_001077690.1:c.*4141G>C	NP_001071158.1:n.*4141G>C
NM_001077691.1:c.*4141G>C	NP_001071159.1:n.*4141G>C
NM_001077692.1:c.*4141G>C	NP_001071160.1:n.*4141G>C
NM_024740.2:c.*4141G>C MANE Select	NP_079016.2:n.*4141G>C
NM_001352409.1:c.*4141G>C	NP_001339338.1:n.*4141G>C
NM_001352410.1:c.*4141G>C	NP_001339339.1:n.*4141G>C
NM_001352411.1:c.*4141G>C	NP_001339340.1:n.*4141G>C
NM_001352412.1:c.*4141G>C	NP_001339341.1:n.*4141G>C
NM_001352413.1:c.*4141G>C	NP_001339342.1:n.*4141G>C
NM_001352414.1:c.*4141G>C	NP_001339343.1:n.*4141G>C
NM_001352415.1:c.*3801G>C	NP_001339344.1:n.*3801G>C
NM_001352416.1:c.*3801G>C	NP_001339345.1:n.*3801G>C
NM_001352417.1:c.*3801G>C	NP_001339346.1:n.*3801G>C
NM_001352418.1:c.*4141G>C	NP_001339347.1:n.*4141G>C
NM_001352419.1:c.*3801G>C	NP_001339348.1:n.*3801G>C
NM_001352420.1:c.*4270G>C	NP_001339349.1:n.*4270G>C
NM_001352421.1:c.*4264G>C	NP_001339350.1:n.*4264G>C
NM_001352422.1:c.*4141G>C	NP_001339351.1:n.*4141G>C
NM_001352423.1:c.*4141G>C	NP_001339352.1:n.*4141G>C
NR_147984.1:n.6596G>C
XM_005277723.5:c.*3801G>C	XP_005277780.1:n.*3801G>C
XM_017018314.2:c.*4141G>C	XP_016873803.1:n.*4141G>C
XR_001747967.2:n.2246+3533G>C
XR_001747968.2:n.2225+3533G>C
XR_001747969.2:n.2123+3533G>C
XR_001747971.1:n.2554+3533G>C
XR_001747972.1:n.2558+3533G>C
XR_001747973.1:n.2261+3533G>C
XR_001747974.1:n.2374+3533G>C
XR_001747975.1:n.2533+3533G>C
XR_001747976.1:n.2537+3533G>C
XR_001747977.1:n.1710+3533G>C
NM_001077691.2:c.*4141G>C	NP_001071159.1:n.*4141G>C
NM_001077692.2:c.*4141G>C	NP_001071160.1:n.*4141G>C
NM_001352411.2:c.*4141G>C	NP_001339340.1:n.*4141G>C
NM_001352412.2:c.*4141G>C	NP_001339341.1:n.*4141G>C
NM_001352414.2:c.*4141G>C	NP_001339343.1:n.*4141G>C
NM_001352420.2:c.*4270G>C	NP_001339349.1:n.*4270G>C
NM_001352421.2:c.*4264G>C	NP_001339350.1:n.*4264G>C
NM_001352422.2:c.*4141G>C	NP_001339351.1:n.*4141G>C
NM_001352423.2:c.*4141G>C	NP_001339352.1:n.*4141G>C
NR_147984.2:n.6616G>C