Canonical Allele Identifier: CA1955516282

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287675A= , CM000673.2:g.18287675A=	GRCh38
NC_000011.9:g.18309222A= , CM000673.1:g.18309222A=	GRCh37
NC_000011.8:g.18265798A=	NCBI36
NG_008877.1:g.39500T= , LRG_586:g.39500T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2577T= MANE Select	ENSP00000265967.5:p.Phe859=
ENST00000349215.7:c.2577T=	ENSP00000265967.5:p.Phe859=
ENST00000352460.7:n.968T=
ENST00000396253.7:c.2235T=	ENSP00000379552.3:p.Phe745=
ENST00000438420.6:c.2235T=	ENSP00000399590.2:p.Phe745=
ENST00000544218.5:c.135T=	ENSP00000441781.1:p.Phe45=
ENST00000545561.1:n.638T=
NM_007216.3:c.2235T=	NP_009147.3:p.Phe745=
NM_181507.1:c.2577T= , LRG_586t1:c.2577T=	NP_852608.1:p.Phe859=
NM_181508.1:c.2235T=	NP_852609.1:p.Phe745=
XM_011519862.1:c.2577T=	XP_011518164.1:p.Phe859=
XM_011519863.1:c.2577T=	XP_011518165.1:p.Phe859=
XM_011519864.1:c.2577T=	XP_011518166.1:p.Phe859=
XM_011519865.1:c.2466T=	XP_011518167.1:p.Phe822=
XM_011519866.1:c.2235T=	XP_011518168.1:p.Phe745=
XM_011519867.1:c.2235T=	XP_011518169.1:p.Phe745=
XM_011519868.1:c.2235T=	XP_011518170.1:p.Phe745=
XM_011519869.1:c.2577T=	XP_011518171.1:p.Phe859=
XM_011519870.1:c.*61T=	XP_011518172.1:n.*61T=
XM_011519871.1:c.*61T=	XP_011518173.1:n.*61T=
XM_011519868.3:c.2235T=	XP_011518170.1:p.Phe745=
XM_017017149.1:c.2577T=	XP_016872638.1:p.Phe859=
XM_017017150.1:c.2577T=	XP_016872639.1:p.Phe859=
XM_017017151.2:c.2466T=	XP_016872640.1:p.Phe822=
XM_017017152.1:c.2466T=	XP_016872641.1:p.Phe822=
XM_017017153.2:c.2466T=	XP_016872642.1:p.Phe822=
XM_017017154.1:c.2235T=	XP_016872643.1:p.Phe745=
XR_001747750.1:n.2846T=
XR_001747751.1:n.2846T=
XR_001747752.1:n.2602T=
XR_001747753.1:n.2719T=
XR_001747754.2:n.2243T=
XR_001747755.2:n.2165T=
XR_001747756.2:n.2178T=
NM_007216.4:c.2235T=	NP_009147.3:p.Phe745=
NM_181507.2:c.2577T= MANE Select	NP_852608.1:p.Phe859=