Canonical Allele Identifier: CA379514835

Gene: HPS5

Linked Data

• dbSNP Id: rs1414979679
• gnomAD v2: 11-18306924-C-G
• gnomAD v4: 11-18285377-C-G
• MyVariant Identifiers: chr11:g.18306924C>G (hg19) ; chr11:g.18285377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285377C>G , CM000673.2:g.18285377C>G	GRCh38
NC_000011.9:g.18306924C>G , CM000673.1:g.18306924C>G	GRCh37
NC_000011.8:g.18263500C>G	NCBI36
NG_008877.1:g.41798G>C , LRG_586:g.41798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2920G>C MANE Select	ENSP00000265967.5:p.Glu974Gln
ENST00000349215.7:c.2920G>C	ENSP00000265967.5:p.Glu974Gln
ENST00000352460.7:n.1228+1214G>C
ENST00000396253.7:c.2578G>C	ENSP00000379552.3:p.Glu860Gln
ENST00000438420.6:c.2578G>C	ENSP00000399590.2:p.Glu860Gln
ENST00000537258.1:c.241G>C	ENSP00000437437.1:p.Glu81Gln
ENST00000544218.5:c.478G>C	ENSP00000441781.1:p.Glu160Gln
ENST00000545561.1:n.981G>C
NM_007216.3:c.2578G>C	NP_009147.3:p.Glu860Gln
NM_181507.1:c.2920G>C , LRG_586t1:c.2920G>C	NP_852608.1:p.Glu974Gln
NM_181508.1:c.2578G>C	NP_852609.1:p.Glu860Gln
XM_011519862.1:c.2920G>C	XP_011518164.1:p.Glu974Gln
XM_011519863.1:c.2920G>C	XP_011518165.1:p.Glu974Gln
XM_011519864.1:c.2920G>C	XP_011518166.1:p.Glu974Gln
XM_011519865.1:c.2809G>C	XP_011518167.1:p.Glu937Gln
XM_011519866.1:c.2578G>C	XP_011518168.1:p.Glu860Gln
XM_011519867.1:c.2578G>C	XP_011518169.1:p.Glu860Gln
XM_011519868.1:c.2578G>C	XP_011518170.1:p.Glu860Gln
XM_011519869.1:c.2920G>C	XP_011518171.1:p.Glu974Gln
XM_011519868.3:c.2578G>C	XP_011518170.1:p.Glu860Gln
XM_017017149.1:c.2920G>C	XP_016872638.1:p.Glu974Gln
XM_017017150.1:c.2920G>C	XP_016872639.1:p.Glu974Gln
XM_017017151.2:c.2809G>C	XP_016872640.1:p.Glu937Gln
XM_017017152.1:c.2809G>C	XP_016872641.1:p.Glu937Gln
XM_017017153.2:c.2809G>C	XP_016872642.1:p.Glu937Gln
XM_017017154.1:c.2578G>C	XP_016872643.1:p.Glu860Gln
XR_001747750.1:n.3189G>C
XR_001747751.1:n.3189G>C
XR_001747752.1:n.2945G>C
XR_001747753.1:n.3062G>C
XR_001747754.2:n.2586G>C
XR_001747755.2:n.2508G>C
XR_001747756.2:n.2521G>C
NM_007216.4:c.2578G>C	NP_009147.3:p.Glu860Gln
NM_181507.2:c.2920G>C MANE Select	NP_852608.1:p.Glu974Gln