Canonical Allele Identifier: CA379514841
Gene: HPS5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18285378T>G , CM000673.2:g.18285378T>G GRCh38
NC_000011.9:g.18306925T>G , CM000673.1:g.18306925T>G GRCh37
NC_000011.8:g.18263501T>G NCBI36
NG_008877.1:g.41797A>C , LRG_586:g.41797A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349215.8:c.2919A>C MANE Select ENSP00000265967.5:p.Lys973Asn
ENST00000349215.7:c.2919A>C ENSP00000265967.5:p.Lys973Asn
ENST00000352460.7:n.1228+1213A>C
ENST00000396253.7:c.2577A>C ENSP00000379552.3:p.Lys859Asn
ENST00000438420.6:c.2577A>C ENSP00000399590.2:p.Lys859Asn
ENST00000537258.1:c.240A>C ENSP00000437437.1:p.Lys80Asn
ENST00000544218.5:c.477A>C ENSP00000441781.1:p.Lys159Asn
ENST00000545561.1:n.980A>C
NM_007216.3:c.2577A>C NP_009147.3:p.Lys859Asn
NM_181507.1:c.2919A>C , LRG_586t1:c.2919A>C NP_852608.1:p.Lys973Asn
NM_181508.1:c.2577A>C NP_852609.1:p.Lys859Asn
XM_011519862.1:c.2919A>C XP_011518164.1:p.Lys973Asn
XM_011519863.1:c.2919A>C XP_011518165.1:p.Lys973Asn
XM_011519864.1:c.2919A>C XP_011518166.1:p.Lys973Asn
XM_011519865.1:c.2808A>C XP_011518167.1:p.Lys936Asn
XM_011519866.1:c.2577A>C XP_011518168.1:p.Lys859Asn
XM_011519867.1:c.2577A>C XP_011518169.1:p.Lys859Asn
XM_011519868.1:c.2577A>C XP_011518170.1:p.Lys859Asn
XM_011519869.1:c.2919A>C XP_011518171.1:p.Lys973Asn
XM_011519868.3:c.2577A>C XP_011518170.1:p.Lys859Asn
XM_017017149.1:c.2919A>C XP_016872638.1:p.Lys973Asn
XM_017017150.1:c.2919A>C XP_016872639.1:p.Lys973Asn
XM_017017151.2:c.2808A>C XP_016872640.1:p.Lys936Asn
XM_017017152.1:c.2808A>C XP_016872641.1:p.Lys936Asn
XM_017017153.2:c.2808A>C XP_016872642.1:p.Lys936Asn
XM_017017154.1:c.2577A>C XP_016872643.1:p.Lys859Asn
XR_001747750.1:n.3188A>C
XR_001747751.1:n.3188A>C
XR_001747752.1:n.2944A>C
XR_001747753.1:n.3061A>C
XR_001747754.2:n.2585A>C
XR_001747755.2:n.2507A>C
XR_001747756.2:n.2520A>C
NM_007216.4:c.2577A>C NP_009147.3:p.Lys859Asn
NM_181507.2:c.2919A>C MANE Select NP_852608.1:p.Lys973Asn