Canonical Allele Identifier: CA5909809

Gene: HPS5

Linked Data

• dbSNP Id: rs745438305
• ExAC: 11:18309205 C / A
• gnomAD v2: 11-18309205-C-A
• gnomAD v4: 11-18287658-C-A
• MyVariant Identifiers: chr11:g.18309205C>A (hg19) ; chr11:g.18287658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287658C>A , CM000673.2:g.18287658C>A	GRCh38
NC_000011.9:g.18309205C>A , CM000673.1:g.18309205C>A	GRCh37
NC_000011.8:g.18265781C>A	NCBI36
NG_008877.1:g.39517G>T , LRG_586:g.39517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2594G>T MANE Select	ENSP00000265967.5:p.Arg865Leu
ENST00000349215.7:c.2594G>T	ENSP00000265967.5:p.Arg865Leu
ENST00000352460.7:n.985G>T
ENST00000396253.7:c.2252G>T	ENSP00000379552.3:p.Arg751Leu
ENST00000438420.6:c.2252G>T	ENSP00000399590.2:p.Arg751Leu
ENST00000544218.5:c.152G>T	ENSP00000441781.1:p.Arg51Leu
ENST00000545561.1:n.655G>T
NM_007216.3:c.2252G>T	NP_009147.3:p.Arg751Leu
NM_181507.1:c.2594G>T , LRG_586t1:c.2594G>T	NP_852608.1:p.Arg865Leu
NM_181508.1:c.2252G>T	NP_852609.1:p.Arg751Leu
XM_011519862.1:c.2594G>T	XP_011518164.1:p.Arg865Leu
XM_011519863.1:c.2594G>T	XP_011518165.1:p.Arg865Leu
XM_011519864.1:c.2594G>T	XP_011518166.1:p.Arg865Leu
XM_011519865.1:c.2483G>T	XP_011518167.1:p.Arg828Leu
XM_011519866.1:c.2252G>T	XP_011518168.1:p.Arg751Leu
XM_011519867.1:c.2252G>T	XP_011518169.1:p.Arg751Leu
XM_011519868.1:c.2252G>T	XP_011518170.1:p.Arg751Leu
XM_011519869.1:c.2594G>T	XP_011518171.1:p.Arg865Leu
XM_011519870.1:c.*78G>T	XP_011518172.1:n.*78G>T
XM_011519871.1:c.*78G>T	XP_011518173.1:n.*78G>T
XM_011519868.3:c.2252G>T	XP_011518170.1:p.Arg751Leu
XM_017017149.1:c.2594G>T	XP_016872638.1:p.Arg865Leu
XM_017017150.1:c.2594G>T	XP_016872639.1:p.Arg865Leu
XM_017017151.2:c.2483G>T	XP_016872640.1:p.Arg828Leu
XM_017017152.1:c.2483G>T	XP_016872641.1:p.Arg828Leu
XM_017017153.2:c.2483G>T	XP_016872642.1:p.Arg828Leu
XM_017017154.1:c.2252G>T	XP_016872643.1:p.Arg751Leu
XR_001747750.1:n.2863G>T
XR_001747751.1:n.2863G>T
XR_001747752.1:n.2619G>T
XR_001747753.1:n.2736G>T
XR_001747754.2:n.2260G>T
XR_001747755.2:n.2182G>T
XR_001747756.2:n.2195G>T
NM_007216.4:c.2252G>T	NP_009147.3:p.Arg751Leu
NM_181507.2:c.2594G>T MANE Select	NP_852608.1:p.Arg865Leu