Canonical Allele Identifier: CA6274311

Gene: ALG9

Linked Data

• ClinVar Variation Id: 2158098
• ClinVar RCV Id: RCV003079747
• dbSNP Id: rs368253352
• ExAC: 11:111657259 A / G
• gnomAD v2: 11-111657259-A-G
• gnomAD v3: 11-111786535-A-G
• gnomAD v4: 11-111786535-A-G
• MyVariant Identifiers: chr11:g.111657259A>G (hg19) ; chr11:g.111786535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111786535A>G , CM000673.2:g.111786535A>G	GRCh38
NC_000011.9:g.111657259A>G , CM000673.1:g.111657259A>G	GRCh37
NC_000011.8:g.111162469A>G	NCBI36
NG_009210.1:g.90046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.1734-15T>C MANE Select	ENSP00000482437.1:n.1734-15T>C
ENST00000398006.6:c.1200-15T>C	ENSP00000381090.2:n.1200-15T>C
ENST00000524671.1:c.290-15T>C
ENST00000525910.1:c.151-15T>C
ENST00000526272.5:n.298-15T>C
ENST00000527212.5:n.253-15T>C
ENST00000531154.5:c.1221-15T>C	ENSP00000435517.1:n.1221-15T>C
ENST00000532425.6:c.467-15T>C
ENST00000614444.4:c.1713-15T>C	ENSP00000484200.1:n.1713-15T>C
ENST00000616540.4:c.1734-15T>C	ENSP00000482437.1:n.1734-15T>C
ENST00000619129.4:c.*1394-15T>C	ENSP00000480661.1:n.*1394-15T>C
ENST00000622211.4:c.2412-15T>C	ENSP00000482396.1:n.2412-15T>C
NM_001077690.1:c.1713-15T>C	NP_001071158.1:n.1713-15T>C
NM_001077691.1:c.1221-15T>C	NP_001071159.1:n.1221-15T>C
NM_001077692.1:c.1200-15T>C	NP_001071160.1:n.1200-15T>C
NM_024740.2:c.1734-15T>C MANE Select	NP_079016.2:n.1734-15T>C
XM_005277723.3:c.1734-15T>C	XP_005277780.1:n.1734-15T>C
XM_005277724.3:c.1713-15T>C	XP_005277781.1:n.1713-15T>C
XM_006718913.2:c.1797-15T>C	XP_006718976.1:n.1797-15T>C
XM_011542992.1:c.*6-15T>C	XP_011541294.1:n.*6-15T>C
XR_947863.1:n.2055-15T>C
XR_947864.1:n.1657-15T>C
XR_947865.1:n.1786-15T>C
NM_001352409.1:c.1200-15T>C	NP_001339338.1:n.1200-15T>C
NM_001352410.1:c.1200-15T>C	NP_001339339.1:n.1200-15T>C
NM_001352411.1:c.1200-15T>C	NP_001339340.1:n.1200-15T>C
NM_001352412.1:c.1200-15T>C	NP_001339341.1:n.1200-15T>C
NM_001352413.1:c.1221-15T>C	NP_001339342.1:n.1221-15T>C
NM_001352414.1:c.1221-15T>C	NP_001339343.1:n.1221-15T>C
NM_001352415.1:c.1200-15T>C	NP_001339344.1:n.1200-15T>C
NM_001352416.1:c.1200-15T>C	NP_001339345.1:n.1200-15T>C
NM_001352417.1:c.1713-15T>C	NP_001339346.1:n.1713-15T>C
NM_001352418.1:c.1590-15T>C	NP_001339347.1:n.1590-15T>C
NM_001352419.1:c.1221-15T>C	NP_001339348.1:n.1221-15T>C
NM_001352420.1:c.*6-15T>C	NP_001339349.1:n.*6-15T>C
NM_001352421.1:c.1263-15T>C	NP_001339350.1:n.1263-15T>C
NM_001352422.1:c.1125-15T>C	NP_001339351.1:n.1125-15T>C
NM_001352423.1:c.1077-15T>C	NP_001339352.1:n.1077-15T>C
NR_147984.1:n.2332-15T>C
XM_005277723.5:c.1734-15T>C	XP_005277780.1:n.1734-15T>C
XM_006718913.3:c.1797-15T>C	XP_006718976.1:n.1797-15T>C
XM_011542992.2:c.*6-15T>C	XP_011541294.1:n.*6-15T>C
XM_017018313.2:c.*6-15T>C	XP_016873802.1:n.*6-15T>C
XM_017018314.2:c.1611-15T>C	XP_016873803.1:n.1611-15T>C
XM_024448695.1:c.1776-15T>C	XP_024304463.1:n.1776-15T>C
XR_001747967.2:n.1822-15T>C
XR_001747968.2:n.1801-15T>C
XR_001747969.2:n.1699-15T>C
XR_001747970.2:n.2023-15T>C
XR_001747971.1:n.2130-15T>C
XR_001747972.1:n.2134-15T>C
XR_001747973.1:n.1837-15T>C
XR_001747974.1:n.1950-15T>C
XR_001747975.1:n.2109-15T>C
XR_001747976.1:n.2113-15T>C
XR_001747977.1:n.1286-15T>C
XR_001747979.1:n.2311-15T>C
XR_001747980.1:n.2007-15T>C
XR_947863.3:n.2044-15T>C
XR_947864.2:n.1646-15T>C
XR_947865.2:n.1775-15T>C
NM_001077691.2:c.1221-15T>C	NP_001071159.1:n.1221-15T>C
NM_001077692.2:c.1200-15T>C	NP_001071160.1:n.1200-15T>C
NM_001352411.2:c.1200-15T>C	NP_001339340.1:n.1200-15T>C
NM_001352412.2:c.1200-15T>C	NP_001339341.1:n.1200-15T>C
NM_001352414.2:c.1221-15T>C	NP_001339343.1:n.1221-15T>C
NM_001352420.2:c.*6-15T>C	NP_001339349.1:n.*6-15T>C
NM_001352421.2:c.1263-15T>C	NP_001339350.1:n.1263-15T>C
NM_001352422.2:c.1125-15T>C	NP_001339351.1:n.1125-15T>C
NM_001352423.2:c.1077-15T>C	NP_001339352.1:n.1077-15T>C
NR_147984.2:n.2352-15T>C