Canonical Allele Identifier: CA2612729885

Gene: HPS5

Linked Data

• gnomAD v4: 11-18287774-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287774G>A , CM000673.2:g.18287774G>A	GRCh38
NC_000011.9:g.18309321G>A , CM000673.1:g.18309321G>A	GRCh37
NC_000011.8:g.18265897G>A	NCBI36
NG_008877.1:g.39401C>T , LRG_586:g.39401C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2562-84C>T MANE Select	ENSP00000265967.5:n.2562-84C>T
ENST00000349215.7:c.2562-84C>T	ENSP00000265967.5:n.2562-84C>T
ENST00000352460.7:n.953-84C>T
ENST00000396253.7:c.2220-84C>T	ENSP00000379552.3:n.2220-84C>T
ENST00000438420.6:c.2220-84C>T	ENSP00000399590.2:n.2220-84C>T
ENST00000544218.5:c.120-84C>T	ENSP00000441781.1:n.120-84C>T
ENST00000545561.1:n.623-84C>T
NM_007216.3:c.2220-84C>T	NP_009147.3:n.2220-84C>T
NM_181507.1:c.2562-84C>T , LRG_586t1:c.2562-84C>T	NP_852608.1:n.2562-84C>T
NM_181508.1:c.2220-84C>T	NP_852609.1:n.2220-84C>T
XM_011519862.1:c.2562-84C>T	XP_011518164.1:n.2562-84C>T
XM_011519863.1:c.2562-84C>T	XP_011518165.1:n.2562-84C>T
XM_011519864.1:c.2562-84C>T	XP_011518166.1:n.2562-84C>T
XM_011519865.1:c.2451-84C>T	XP_011518167.1:n.2451-84C>T
XM_011519866.1:c.2220-84C>T	XP_011518168.1:n.2220-84C>T
XM_011519867.1:c.2220-84C>T	XP_011518169.1:n.2220-84C>T
XM_011519868.1:c.2220-84C>T	XP_011518170.1:n.2220-84C>T
XM_011519869.1:c.2562-84C>T	XP_011518171.1:n.2562-84C>T
XM_011519870.1:c.*46-84C>T	XP_011518172.1:n.*46-84C>T
XM_011519871.1:c.*46-84C>T	XP_011518173.1:n.*46-84C>T
XM_011519868.3:c.2220-84C>T	XP_011518170.1:n.2220-84C>T
XM_017017149.1:c.2562-84C>T	XP_016872638.1:n.2562-84C>T
XM_017017150.1:c.2562-84C>T	XP_016872639.1:n.2562-84C>T
XM_017017151.2:c.2451-84C>T	XP_016872640.1:n.2451-84C>T
XM_017017152.1:c.2451-84C>T	XP_016872641.1:n.2451-84C>T
XM_017017153.2:c.2451-84C>T	XP_016872642.1:n.2451-84C>T
XM_017017154.1:c.2220-84C>T	XP_016872643.1:n.2220-84C>T
XR_001747750.1:n.2831-84C>T
XR_001747751.1:n.2831-84C>T
XR_001747752.1:n.2587-84C>T
XR_001747753.1:n.2704-84C>T
XR_001747754.2:n.2228-84C>T
XR_001747755.2:n.2150-84C>T
XR_001747756.2:n.2163-84C>T
NM_007216.4:c.2220-84C>T	NP_009147.3:n.2220-84C>T
NM_181507.2:c.2562-84C>T MANE Select	NP_852608.1:n.2562-84C>T