Canonical Allele Identifier: CA473369551

Gene: HPS5

Linked Data

• MyVariant Identifiers: chr11:g.18306928G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285381G>A , CM000673.2:g.18285381G>A	GRCh38
NC_000011.9:g.18306928G>A , CM000673.1:g.18306928G>A	GRCh37
NC_000011.8:g.18263504G>A	NCBI36
NG_008877.1:g.41794C>T , LRG_586:g.41794C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349215.8:c.2916C>T MANE Select	ENSP00000265967.5:p.Thr972=
ENST00000349215.7:c.2916C>T	ENSP00000265967.5:p.Thr972=
ENST00000352460.7:n.1228+1210C>T
ENST00000396253.7:c.2574C>T	ENSP00000379552.3:p.Thr858=
ENST00000438420.6:c.2574C>T	ENSP00000399590.2:p.Thr858=
ENST00000537258.1:c.237C>T	ENSP00000437437.1:p.Thr79=
ENST00000544218.5:c.474C>T	ENSP00000441781.1:p.Thr158=
ENST00000545561.1:n.977C>T
NM_007216.3:c.2574C>T	NP_009147.3:p.Thr858=
NM_181507.1:c.2916C>T , LRG_586t1:c.2916C>T	NP_852608.1:p.Thr972=
NM_181508.1:c.2574C>T	NP_852609.1:p.Thr858=
XM_011519862.1:c.2916C>T	XP_011518164.1:p.Thr972=
XM_011519863.1:c.2916C>T	XP_011518165.1:p.Thr972=
XM_011519864.1:c.2916C>T	XP_011518166.1:p.Thr972=
XM_011519865.1:c.2805C>T	XP_011518167.1:p.Thr935=
XM_011519866.1:c.2574C>T	XP_011518168.1:p.Thr858=
XM_011519867.1:c.2574C>T	XP_011518169.1:p.Thr858=
XM_011519868.1:c.2574C>T	XP_011518170.1:p.Thr858=
XM_011519869.1:c.2916C>T	XP_011518171.1:p.Thr972=
XM_011519868.3:c.2574C>T	XP_011518170.1:p.Thr858=
XM_017017149.1:c.2916C>T	XP_016872638.1:p.Thr972=
XM_017017150.1:c.2916C>T	XP_016872639.1:p.Thr972=
XM_017017151.2:c.2805C>T	XP_016872640.1:p.Thr935=
XM_017017152.1:c.2805C>T	XP_016872641.1:p.Thr935=
XM_017017153.2:c.2805C>T	XP_016872642.1:p.Thr935=
XM_017017154.1:c.2574C>T	XP_016872643.1:p.Thr858=
XR_001747750.1:n.3185C>T
XR_001747751.1:n.3185C>T
XR_001747752.1:n.2941C>T
XR_001747753.1:n.3058C>T
XR_001747754.2:n.2582C>T
XR_001747755.2:n.2504C>T
XR_001747756.2:n.2517C>T
NM_007216.4:c.2574C>T	NP_009147.3:p.Thr858=
NM_181507.2:c.2916C>T MANE Select	NP_852608.1:p.Thr972=