Canonical Allele Identifier: CA411033279

Gene: HPS4

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26479357T>C , CM000684.2:g.26479357T>C	GRCh38
NC_000022.10:g.26875323T>C , CM000684.1:g.26875323T>C	GRCh37
NC_000022.9:g.25205323T>C	NCBI36
NG_009763.2:g.9507A>G , LRG_590:g.9507A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022081.6:c.42-2A>G MANE Select	NP_071364.4:n.42-2A>G
ENST00000398145.7:c.42-2A>G MANE Select	ENSP00000381213.2:n.42-2A>G
NM_001349896.1:c.42-2A>G	NP_001336825.1:n.42-2A>G
NM_001349898.1:c.42-2A>G	NP_001336827.1:n.42-2A>G
NM_001349898.2:c.42-2A>G	NP_001336827.1:n.42-2A>G
NM_001349899.1:c.42-2A>G	NP_001336828.1:n.42-2A>G
NM_001349899.2:c.42-2A>G	NP_001336828.1:n.42-2A>G
NM_001349900.1:c.42-2A>G	NP_001336829.1:n.42-2A>G
NM_001349900.2:c.42-2A>G	NP_001336829.1:n.42-2A>G
NM_001349901.1:c.42-2A>G	NP_001336830.1:n.42-2A>G
NM_001349902.1:c.42-2A>G	NP_001336831.1:n.42-2A>G
NM_001349903.1:c.42-2A>G	NP_001336832.1:n.42-2A>G
NM_001349903.2:c.42-2A>G	NP_001336832.1:n.42-2A>G
NM_001349904.1:c.42-2A>G	NP_001336833.1:n.42-2A>G
NM_001349904.2:c.42-2A>G	NP_001336833.1:n.42-2A>G
NM_001349905.1:c.42-2A>G	NP_001336834.1:n.42-2A>G
NM_022081.5:c.42-2A>G , LRG_590t1:c.42-2A>G	NP_071364.4:n.42-2A>G
NM_152841.2:c.25A>G , LRG_590t2:c.25A>G	NP_690054.1:p.Arg9Gly
NR_073135.1:n.619-2A>G
NR_073136.1:n.325A>G
NR_073136.2:n.132A>G
NR_146311.1:n.710-2A>G
NR_146311.2:n.630-2A>G
NR_146312.1:n.619-2A>G
NR_146313.1:n.639-2A>G
NR_146313.2:n.559-2A>G
NR_146314.1:n.619-2A>G
NR_146315.1:n.710-2A>G
NR_146315.2:n.630-2A>G
NR_146316.1:n.710-2A>G
NR_146316.2:n.630-2A>G
ENST00000336873.9:c.42-2A>G	ENSP00000338457.5:n.42-2A>G
ENST00000398145.6:c.42-2A>G	ENSP00000381213.2:n.42-2A>G
ENST00000402105.7:c.25A>G	ENSP00000384185.3:p.Arg9Gly
ENST00000422379.2:c.42-2A>G	ENSP00000415081.2:n.42-2A>G
ENST00000422379.3:c.42-2A>G	ENSP00000415081.3:n.42-2A>G
ENST00000429411.5:c.25A>G	ENSP00000399705.1:p.Arg9Gly
ENST00000439453.5:c.42-2A>G	ENSP00000406764.1:n.42-2A>G
ENST00000464362.5:c.25A>G	ENSP00000430291.1:p.Arg9Gly
ENST00000466781.5:n.613-2A>G
ENST00000473782.2:c.42-2A>G	ENSP00000514223.1:n.42-2A>G
ENST00000481910.1:n.55A>G
ENST00000483631.1:n.592-2221A>G
ENST00000483631.2:c.-663-2221A>G	ENSP00000514228.1:n.-663-2221A>G
ENST00000491142.2:c.42-2A>G	ENSP00000514221.1:n.42-2A>G
ENST00000496385.5:n.132A>G
ENST00000699227.1:c.42-2A>G	ENSP00000514220.1:n.42-2A>G
ENST00000699228.1:n.592-2A>G
ENST00000699234.1:c.25A>G	ENSP00000514222.1:p.Arg9Gly
ENST00000699235.1:c.-590-2221A>G	ENSP00000514224.1:n.-590-2221A>G
ENST00000699236.1:c.42-2A>G	ENSP00000514225.1:n.42-2A>G
ENST00000699237.1:c.42-2A>G	ENSP00000514226.1:n.42-2A>G
ENST00000699238.1:c.42-2A>G	ENSP00000514227.1:n.42-2A>G
ENST00000699239.1:n.599-2221A>G
ENST00000699240.1:c.42-2A>G	ENSP00000514229.1:n.42-2A>G
ENST00000699241.1:c.42-2A>G	ENSP00000514230.1:n.42-2A>G
ENST00000699242.1:c.42-2A>G	ENSP00000514231.1:n.42-2A>G
ENST00000699243.1:c.42-2A>G	ENSP00000514232.1:n.42-2A>G
ENST00000699244.1:c.42-2A>G	ENSP00000514233.1:n.42-2A>G
ENST00000699246.1:c.42-2A>G	ENSP00000514234.1:n.42-2A>G
ENST00000699247.1:c.42-2A>G	ENSP00000514235.1:n.42-2A>G
ENST00000699249.1:c.42-2A>G	ENSP00000514236.1:n.42-2A>G
ENST00000699250.1:c.42-2A>G	ENSP00000514237.1:n.42-2A>G
ENST00000699251.1:c.42-2A>G	ENSP00000514238.1:n.42-2A>G
ENST00000699252.1:n.592-2A>G
ENST00000699253.1:n.612-2A>G
ENST00000699255.1:n.126A>G
ENST00000699256.1:n.559-2A>G
ENST00000699257.1:n.2949A>G
XM_006724353.2:c.42-2A>G	XP_006724416.1:n.42-2A>G
XM_006724354.2:c.42-2A>G	XP_006724417.1:n.42-2A>G
XM_011530485.1:c.42-2A>G	XP_011528787.1:n.42-2A>G
XM_011530485.2:c.42-2A>G	XP_011528787.1:n.42-2A>G
XM_011530486.1:c.42-2A>G	XP_011528788.1:n.42-2A>G
XM_011530486.2:c.42-2A>G	XP_011528788.1:n.42-2A>G
XM_011530487.1:c.42-2A>G	XP_011528789.1:n.42-2A>G
XM_011530487.2:c.42-2A>G	XP_011528789.1:n.42-2A>G
XM_011530488.1:c.42-2A>G	XP_011528790.1:n.42-2A>G
XM_011530488.2:c.42-2A>G	XP_011528790.1:n.42-2A>G
XM_011530489.1:c.42-2A>G	XP_011528791.1:n.42-2A>G
XM_011530489.2:c.42-2A>G	XP_011528791.1:n.42-2A>G
XM_011530490.1:c.42-2A>G	XP_011528792.1:n.42-2A>G
XM_011530490.3:c.42-2A>G	XP_011528792.1:n.42-2A>G
XM_011530491.1:c.42-2A>G	XP_011528793.1:n.42-2A>G
XM_011530491.3:c.42-2A>G	XP_011528793.1:n.42-2A>G
XM_011530492.1:c.42-2A>G	XP_011528794.1:n.42-2A>G
XM_011530492.2:c.42-2A>G	XP_011528794.1:n.42-2A>G
XM_011530493.1:c.42-2A>G	XP_011528795.1:n.42-2A>G
XM_011530493.3:c.42-2A>G	XP_011528795.1:n.42-2A>G
XM_011530494.1:c.-660-2221A>G	XP_011528796.1:n.-660-2221A>G
XM_011530494.2:c.-660-2221A>G	XP_011528796.1:n.-660-2221A>G
XM_017029045.2:c.42-2A>G	XP_016884534.1:n.42-2A>G
XM_017029046.2:c.42-2A>G	XP_016884535.1:n.42-2A>G
XM_017029047.2:c.42-2A>G	XP_016884536.1:n.42-2A>G
XM_017029052.2:c.-530-2A>G	XP_016884541.1:n.-530-2A>G
XM_017029056.2:c.-930-2A>G	XP_016884545.1:n.-930-2A>G
XM_017029061.2:c.-888-2A>G	XP_016884550.1:n.-888-2A>G
XM_017029062.2:c.-663-2221A>G	XP_016884551.1:n.-663-2221A>G
XM_017029063.2:c.-888-2A>G	XP_016884552.1:n.-888-2A>G
XM_017029064.2:c.-663-2221A>G	XP_016884553.1:n.-663-2221A>G
XM_024452298.1:c.-2783-2221A>G	XP_024308066.1:n.-2783-2221A>G
XM_024452299.1:c.-1337-2221A>G	XP_024308067.1:n.-1337-2221A>G
XM_024452300.1:c.-688-2221A>G	XP_024308068.1:n.-688-2221A>G
XR_001755361.2:n.696-2A>G
XR_001755364.1:n.606-2A>G
XR_001755366.2:n.605-2A>G
XR_002958721.1:n.696-2A>G
XR_937947.1:n.701-2A>G
XR_937947.2:n.696-2A>G