Canonical Allele Identifier: CA379514456

Gene: HPS5

Linked Data

• dbSNP Id: rs1564928969
• gnomAD v3: 11-18285358-C-A
• gnomAD v4: 11-18285358-C-A
• MyVariant Identifiers: chr11:g.18306905C>A (hg19) ; chr11:g.18285358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285358C>A , CM000673.2:g.18285358C>A	GRCh38
NC_000011.9:g.18306905C>A , CM000673.1:g.18306905C>A	GRCh37
NC_000011.8:g.18263481C>A	NCBI36
NG_008877.1:g.41817G>T , LRG_586:g.41817G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2939G>T MANE Select	ENSP00000265967.5:p.Cys980Phe
ENST00000349215.7:c.2939G>T	ENSP00000265967.5:p.Cys980Phe
ENST00000352460.7:n.1228+1233G>T
ENST00000396253.7:c.2597G>T	ENSP00000379552.3:p.Cys866Phe
ENST00000438420.6:c.2597G>T	ENSP00000399590.2:p.Cys866Phe
ENST00000537258.1:c.260G>T	ENSP00000437437.1:p.Cys87Phe
ENST00000545561.1:n.1000G>T
NM_007216.3:c.2597G>T	NP_009147.3:p.Cys866Phe
NM_181507.1:c.2939G>T , LRG_586t1:c.2939G>T	NP_852608.1:p.Cys980Phe
NM_181508.1:c.2597G>T	NP_852609.1:p.Cys866Phe
XM_011519862.1:c.2939G>T	XP_011518164.1:p.Cys980Phe
XM_011519863.1:c.2939G>T	XP_011518165.1:p.Cys980Phe
XM_011519864.1:c.2939G>T	XP_011518166.1:p.Cys980Phe
XM_011519865.1:c.2828G>T	XP_011518167.1:p.Cys943Phe
XM_011519866.1:c.2597G>T	XP_011518168.1:p.Cys866Phe
XM_011519867.1:c.2597G>T	XP_011518169.1:p.Cys866Phe
XM_011519868.1:c.2597G>T	XP_011518170.1:p.Cys866Phe
XM_011519869.1:c.2939G>T	XP_011518171.1:p.Cys980Phe
XM_011519868.3:c.2597G>T	XP_011518170.1:p.Cys866Phe
XM_017017149.1:c.2939G>T	XP_016872638.1:p.Cys980Phe
XM_017017150.1:c.2939G>T	XP_016872639.1:p.Cys980Phe
XM_017017151.2:c.2828G>T	XP_016872640.1:p.Cys943Phe
XM_017017152.1:c.2828G>T	XP_016872641.1:p.Cys943Phe
XM_017017153.2:c.2828G>T	XP_016872642.1:p.Cys943Phe
XM_017017154.1:c.2597G>T	XP_016872643.1:p.Cys866Phe
XR_001747750.1:n.3208G>T
XR_001747751.1:n.3208G>T
XR_001747752.1:n.2964G>T
XR_001747753.1:n.3081G>T
XR_001747754.2:n.2605G>T
XR_001747755.2:n.2527G>T
XR_001747756.2:n.2540G>T
NM_007216.4:c.2597G>T	NP_009147.3:p.Cys866Phe
NM_181507.2:c.2939G>T MANE Select	NP_852608.1:p.Cys980Phe