Canonical Allele Identifier: CA379519509

Gene: HPS5

Linked Data

• dbSNP Id: rs1859907242
• gnomAD v3: 11-18287665-C-T
• gnomAD v4: 11-18287665-C-T
• MyVariant Identifiers: chr11:g.18309212C>T (hg19) ; chr11:g.18287665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287665C>T , CM000673.2:g.18287665C>T	GRCh38
NC_000011.9:g.18309212C>T , CM000673.1:g.18309212C>T	GRCh37
NC_000011.8:g.18265788C>T	NCBI36
NG_008877.1:g.39510G>A , LRG_586:g.39510G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000349215.8:c.2587G>A MANE Select	ENSP00000265967.5:p.Ala863Thr
ENST00000349215.7:c.2587G>A	ENSP00000265967.5:p.Ala863Thr
ENST00000352460.7:n.978G>A
ENST00000396253.7:c.2245G>A	ENSP00000379552.3:p.Ala749Thr
ENST00000438420.6:c.2245G>A	ENSP00000399590.2:p.Ala749Thr
ENST00000544218.5:c.145G>A	ENSP00000441781.1:p.Ala49Thr
ENST00000545561.1:n.648G>A
NM_007216.3:c.2245G>A	NP_009147.3:p.Ala749Thr
NM_181507.1:c.2587G>A , LRG_586t1:c.2587G>A	NP_852608.1:p.Ala863Thr
NM_181508.1:c.2245G>A	NP_852609.1:p.Ala749Thr
XM_011519862.1:c.2587G>A	XP_011518164.1:p.Ala863Thr
XM_011519863.1:c.2587G>A	XP_011518165.1:p.Ala863Thr
XM_011519864.1:c.2587G>A	XP_011518166.1:p.Ala863Thr
XM_011519865.1:c.2476G>A	XP_011518167.1:p.Ala826Thr
XM_011519866.1:c.2245G>A	XP_011518168.1:p.Ala749Thr
XM_011519867.1:c.2245G>A	XP_011518169.1:p.Ala749Thr
XM_011519868.1:c.2245G>A	XP_011518170.1:p.Ala749Thr
XM_011519869.1:c.2587G>A	XP_011518171.1:p.Ala863Thr
XM_011519870.1:c.*71G>A	XP_011518172.1:n.*71G>A
XM_011519871.1:c.*71G>A	XP_011518173.1:n.*71G>A
XM_011519868.3:c.2245G>A	XP_011518170.1:p.Ala749Thr
XM_017017149.1:c.2587G>A	XP_016872638.1:p.Ala863Thr
XM_017017150.1:c.2587G>A	XP_016872639.1:p.Ala863Thr
XM_017017151.2:c.2476G>A	XP_016872640.1:p.Ala826Thr
XM_017017152.1:c.2476G>A	XP_016872641.1:p.Ala826Thr
XM_017017153.2:c.2476G>A	XP_016872642.1:p.Ala826Thr
XM_017017154.1:c.2245G>A	XP_016872643.1:p.Ala749Thr
XR_001747750.1:n.2856G>A
XR_001747751.1:n.2856G>A
XR_001747752.1:n.2612G>A
XR_001747753.1:n.2729G>A
XR_001747754.2:n.2253G>A
XR_001747755.2:n.2175G>A
XR_001747756.2:n.2188G>A
NM_007216.4:c.2245G>A	NP_009147.3:p.Ala749Thr
NM_181507.2:c.2587G>A MANE Select	NP_852608.1:p.Ala863Thr