Canonical Allele Identifier: CA2697548496

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18283921G>A , CM000673.2:g.18283921G>A	GRCh38
NC_000011.9:g.18305468G>A , CM000673.1:g.18305468G>A	GRCh37
NC_000011.8:g.18262044G>A	NCBI36
NG_008877.1:g.43254C>T , LRG_586:g.43254C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181507.2:c.2952-20C>T MANE Select	NP_852608.1:n.2952-20C>T
ENST00000349215.8:c.2952-20C>T MANE Select	ENSP00000265967.5:n.2952-20C>T
NM_007216.3:c.2610-20C>T	NP_009147.3:n.2610-20C>T
NM_007216.4:c.2610-20C>T	NP_009147.3:n.2610-20C>T
NM_181507.1:c.2952-20C>T , LRG_586t1:c.2952-20C>T	NP_852608.1:n.2952-20C>T
NM_181508.1:c.2610-20C>T	NP_852609.1:n.2610-20C>T
ENST00000349215.7:c.2952-20C>T	ENSP00000265967.5:n.2952-20C>T
ENST00000352460.7:n.1229-20C>T
ENST00000396253.7:c.2610-20C>T	ENSP00000379552.3:n.2610-20C>T
ENST00000438420.6:c.2610-20C>T	ENSP00000399590.2:n.2610-20C>T
ENST00000537258.1:c.273-20C>T	ENSP00000437437.1:n.273-20C>T
ENST00000545561.1:n.1013-20C>T
XM_011519862.1:c.2952-20C>T	XP_011518164.1:n.2952-20C>T
XM_011519863.1:c.2952-20C>T	XP_011518165.1:n.2952-20C>T
XM_011519864.1:c.2952-20C>T	XP_011518166.1:n.2952-20C>T
XM_011519865.1:c.2841-20C>T	XP_011518167.1:n.2841-20C>T
XM_011519866.1:c.2610-20C>T	XP_011518168.1:n.2610-20C>T
XM_011519867.1:c.2610-20C>T	XP_011518169.1:n.2610-20C>T
XM_011519868.1:c.2610-20C>T	XP_011518170.1:n.2610-20C>T
XM_011519868.3:c.2610-20C>T	XP_011518170.1:n.2610-20C>T
XM_011519869.1:c.2992C>T	XP_011518171.1:p.Gln998Ter
XM_017017149.1:c.2952-20C>T	XP_016872638.1:n.2952-20C>T
XM_017017150.1:c.2952-20C>T	XP_016872639.1:n.2952-20C>T
XM_017017151.2:c.2841-20C>T	XP_016872640.1:n.2841-20C>T
XM_017017152.1:c.2841-20C>T	XP_016872641.1:n.2841-20C>T
XM_017017153.2:c.2841-20C>T	XP_016872642.1:n.2841-20C>T
XM_017017154.1:c.2610-20C>T	XP_016872643.1:n.2610-20C>T
XR_001747750.1:n.3220+1425C>T
XR_001747751.1:n.3261C>T
XR_001747752.1:n.2976+1425C>T
XR_001747753.1:n.3093+1425C>T
XR_001747754.2:n.2618-20C>T
XR_001747755.2:n.2540-20C>T
XR_001747756.2:n.2593C>T