Canonical Allele Identifier: CA5909703

Gene: HPS5

Linked Data

• dbSNP Id: rs764938295
• ExAC: 11:18306932 A / T
• gnomAD v2: 11-18306932-A-T
• gnomAD v4: 11-18285385-A-T
• MyVariant Identifiers: chr11:g.18306932A>T (hg19) ; chr11:g.18285385A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285385A>T , CM000673.2:g.18285385A>T	GRCh38
NC_000011.9:g.18306932A>T , CM000673.1:g.18306932A>T	GRCh37
NC_000011.8:g.18263508A>T	NCBI36
NG_008877.1:g.41790T>A , LRG_586:g.41790T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2912T>A MANE Select	ENSP00000265967.5:p.Ile971Lys
ENST00000349215.7:c.2912T>A	ENSP00000265967.5:p.Ile971Lys
ENST00000352460.7:n.1228+1206T>A
ENST00000396253.7:c.2570T>A	ENSP00000379552.3:p.Ile857Lys
ENST00000438420.6:c.2570T>A	ENSP00000399590.2:p.Ile857Lys
ENST00000537258.1:c.233T>A	ENSP00000437437.1:p.Ile78Lys
ENST00000544218.5:c.470T>A	ENSP00000441781.1:p.Ile157Lys
ENST00000545561.1:n.973T>A
NM_007216.3:c.2570T>A	NP_009147.3:p.Ile857Lys
NM_181507.1:c.2912T>A , LRG_586t1:c.2912T>A	NP_852608.1:p.Ile971Lys
NM_181508.1:c.2570T>A	NP_852609.1:p.Ile857Lys
XM_011519862.1:c.2912T>A	XP_011518164.1:p.Ile971Lys
XM_011519863.1:c.2912T>A	XP_011518165.1:p.Ile971Lys
XM_011519864.1:c.2912T>A	XP_011518166.1:p.Ile971Lys
XM_011519865.1:c.2801T>A	XP_011518167.1:p.Ile934Lys
XM_011519866.1:c.2570T>A	XP_011518168.1:p.Ile857Lys
XM_011519867.1:c.2570T>A	XP_011518169.1:p.Ile857Lys
XM_011519868.1:c.2570T>A	XP_011518170.1:p.Ile857Lys
XM_011519869.1:c.2912T>A	XP_011518171.1:p.Ile971Lys
XM_011519868.3:c.2570T>A	XP_011518170.1:p.Ile857Lys
XM_017017149.1:c.2912T>A	XP_016872638.1:p.Ile971Lys
XM_017017150.1:c.2912T>A	XP_016872639.1:p.Ile971Lys
XM_017017151.2:c.2801T>A	XP_016872640.1:p.Ile934Lys
XM_017017152.1:c.2801T>A	XP_016872641.1:p.Ile934Lys
XM_017017153.2:c.2801T>A	XP_016872642.1:p.Ile934Lys
XM_017017154.1:c.2570T>A	XP_016872643.1:p.Ile857Lys
XR_001747750.1:n.3181T>A
XR_001747751.1:n.3181T>A
XR_001747752.1:n.2937T>A
XR_001747753.1:n.3054T>A
XR_001747754.2:n.2578T>A
XR_001747755.2:n.2500T>A
XR_001747756.2:n.2513T>A
NM_007216.4:c.2570T>A	NP_009147.3:p.Ile857Lys
NM_181507.2:c.2912T>A MANE Select	NP_852608.1:p.Ile971Lys