Canonical Allele Identifier: CA379519516

Gene: HPS5

Linked Data

• ClinVar Variation Id: 2243453
• ClinVar RCV Id: RCV002737720
• dbSNP Id: rs1373111138
• gnomAD v2: 11-18309214-G-C
• gnomAD v3: 11-18287667-G-C
• gnomAD v4: 11-18287667-G-C
• MyVariant Identifiers: chr11:g.18309214G>C (hg19) ; chr11:g.18287667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287667G>C , CM000673.2:g.18287667G>C	GRCh38
NC_000011.9:g.18309214G>C , CM000673.1:g.18309214G>C	GRCh37
NC_000011.8:g.18265790G>C	NCBI36
NG_008877.1:g.39508C>G , LRG_586:g.39508C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000349215.8:c.2585C>G MANE Select	ENSP00000265967.5:p.Ser862Cys
ENST00000349215.7:c.2585C>G	ENSP00000265967.5:p.Ser862Cys
ENST00000352460.7:n.976C>G
ENST00000396253.7:c.2243C>G	ENSP00000379552.3:p.Ser748Cys
ENST00000438420.6:c.2243C>G	ENSP00000399590.2:p.Ser748Cys
ENST00000544218.5:c.143C>G	ENSP00000441781.1:p.Ser48Cys
ENST00000545561.1:n.646C>G
NM_007216.3:c.2243C>G	NP_009147.3:p.Ser748Cys
NM_181507.1:c.2585C>G , LRG_586t1:c.2585C>G	NP_852608.1:p.Ser862Cys
NM_181508.1:c.2243C>G	NP_852609.1:p.Ser748Cys
XM_011519862.1:c.2585C>G	XP_011518164.1:p.Ser862Cys
XM_011519863.1:c.2585C>G	XP_011518165.1:p.Ser862Cys
XM_011519864.1:c.2585C>G	XP_011518166.1:p.Ser862Cys
XM_011519865.1:c.2474C>G	XP_011518167.1:p.Ser825Cys
XM_011519866.1:c.2243C>G	XP_011518168.1:p.Ser748Cys
XM_011519867.1:c.2243C>G	XP_011518169.1:p.Ser748Cys
XM_011519868.1:c.2243C>G	XP_011518170.1:p.Ser748Cys
XM_011519869.1:c.2585C>G	XP_011518171.1:p.Ser862Cys
XM_011519870.1:c.*69C>G	XP_011518172.1:n.*69C>G
XM_011519871.1:c.*69C>G	XP_011518173.1:n.*69C>G
XM_011519868.3:c.2243C>G	XP_011518170.1:p.Ser748Cys
XM_017017149.1:c.2585C>G	XP_016872638.1:p.Ser862Cys
XM_017017150.1:c.2585C>G	XP_016872639.1:p.Ser862Cys
XM_017017151.2:c.2474C>G	XP_016872640.1:p.Ser825Cys
XM_017017152.1:c.2474C>G	XP_016872641.1:p.Ser825Cys
XM_017017153.2:c.2474C>G	XP_016872642.1:p.Ser825Cys
XM_017017154.1:c.2243C>G	XP_016872643.1:p.Ser748Cys
XR_001747750.1:n.2854C>G
XR_001747751.1:n.2854C>G
XR_001747752.1:n.2610C>G
XR_001747753.1:n.2727C>G
XR_001747754.2:n.2251C>G
XR_001747755.2:n.2173C>G
XR_001747756.2:n.2186C>G
NM_007216.4:c.2243C>G	NP_009147.3:p.Ser748Cys
NM_181507.2:c.2585C>G MANE Select	NP_852608.1:p.Ser862Cys