Canonical Allele Identifier: CA2839292219

Gene: HPS5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18303565A>G , CM000673.2:g.18303565A>G	GRCh38
NC_000011.9:g.18325112A>G , CM000673.1:g.18325112A>G	GRCh37
NC_000011.8:g.18281688A>G	NCBI36
NG_008877.1:g.23610T>C , LRG_586:g.23610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.896+1857T>C MANE Select	ENSP00000265967.5:n.896+1857T>C
ENST00000349215.7:c.896+1857T>C	ENSP00000265967.5:n.896+1857T>C
ENST00000396253.7:c.554+1857T>C	ENSP00000379552.3:n.554+1857T>C
ENST00000438420.6:c.554+1857T>C	ENSP00000399590.2:n.554+1857T>C
ENST00000531848.1:c.554+1857T>C	ENSP00000431758.1:n.554+1857T>C
NM_007216.3:c.554+1857T>C	NP_009147.3:n.554+1857T>C
NM_181507.1:c.896+1857T>C , LRG_586t1:c.896+1857T>C	NP_852608.1:n.896+1857T>C
NM_181508.1:c.554+1857T>C	NP_852609.1:n.554+1857T>C
XM_011519862.1:c.896+1857T>C	XP_011518164.1:n.896+1857T>C
XM_011519863.1:c.896+1857T>C	XP_011518165.1:n.896+1857T>C
XM_011519864.1:c.896+1857T>C	XP_011518166.1:n.896+1857T>C
XM_011519865.1:c.785+1857T>C	XP_011518167.1:n.785+1857T>C
XM_011519866.1:c.554+1857T>C	XP_011518168.1:n.554+1857T>C
XM_011519867.1:c.554+1857T>C	XP_011518169.1:n.554+1857T>C
XM_011519868.1:c.554+1857T>C	XP_011518170.1:n.554+1857T>C
XM_011519869.1:c.896+1857T>C	XP_011518171.1:n.896+1857T>C
XM_011519870.1:c.896+1857T>C	XP_011518172.1:n.896+1857T>C
XM_011519871.1:c.896+1857T>C	XP_011518173.1:n.896+1857T>C
XM_011519868.3:c.554+1857T>C	XP_011518170.1:n.554+1857T>C
XM_017017149.1:c.896+1857T>C	XP_016872638.1:n.896+1857T>C
XM_017017150.1:c.896+1857T>C	XP_016872639.1:n.896+1857T>C
XM_017017151.2:c.785+1857T>C	XP_016872640.1:n.785+1857T>C
XM_017017152.1:c.785+1857T>C	XP_016872641.1:n.785+1857T>C
XM_017017153.2:c.785+1857T>C	XP_016872642.1:n.785+1857T>C
XM_017017154.1:c.554+1857T>C	XP_016872643.1:n.554+1857T>C
XR_001747750.1:n.1165+1857T>C
XR_001747751.1:n.1165+1857T>C
XR_001747752.1:n.921+1857T>C
XR_001747753.1:n.1038+1857T>C
XR_001747754.2:n.1140+1857T>C
XR_001747755.2:n.1140+1857T>C
XR_001747756.2:n.1153+1857T>C
NM_007216.4:c.554+1857T>C	NP_009147.3:n.554+1857T>C
NM_181507.2:c.896+1857T>C MANE Select	NP_852608.1:n.896+1857T>C