Canonical Allele Identifier: CA379514825

Gene: HPS5

Linked Data

• MyVariant Identifiers: chr11:g.18306923T>G (hg19) ; chr11:g.18285376T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285376T>G , CM000673.2:g.18285376T>G	GRCh38
NC_000011.9:g.18306923T>G , CM000673.1:g.18306923T>G	GRCh37
NC_000011.8:g.18263499T>G	NCBI36
NG_008877.1:g.41799A>C , LRG_586:g.41799A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349215.8:c.2921A>C MANE Select	ENSP00000265967.5:p.Glu974Ala
ENST00000349215.7:c.2921A>C	ENSP00000265967.5:p.Glu974Ala
ENST00000352460.7:n.1228+1215A>C
ENST00000396253.7:c.2579A>C	ENSP00000379552.3:p.Glu860Ala
ENST00000438420.6:c.2579A>C	ENSP00000399590.2:p.Glu860Ala
ENST00000537258.1:c.242A>C	ENSP00000437437.1:p.Glu81Ala
ENST00000544218.5:c.479A>C	ENSP00000441781.1:p.Glu160Ala
ENST00000545561.1:n.982A>C
NM_007216.3:c.2579A>C	NP_009147.3:p.Glu860Ala
NM_181507.1:c.2921A>C , LRG_586t1:c.2921A>C	NP_852608.1:p.Glu974Ala
NM_181508.1:c.2579A>C	NP_852609.1:p.Glu860Ala
XM_011519862.1:c.2921A>C	XP_011518164.1:p.Glu974Ala
XM_011519863.1:c.2921A>C	XP_011518165.1:p.Glu974Ala
XM_011519864.1:c.2921A>C	XP_011518166.1:p.Glu974Ala
XM_011519865.1:c.2810A>C	XP_011518167.1:p.Glu937Ala
XM_011519866.1:c.2579A>C	XP_011518168.1:p.Glu860Ala
XM_011519867.1:c.2579A>C	XP_011518169.1:p.Glu860Ala
XM_011519868.1:c.2579A>C	XP_011518170.1:p.Glu860Ala
XM_011519869.1:c.2921A>C	XP_011518171.1:p.Glu974Ala
XM_011519868.3:c.2579A>C	XP_011518170.1:p.Glu860Ala
XM_017017149.1:c.2921A>C	XP_016872638.1:p.Glu974Ala
XM_017017150.1:c.2921A>C	XP_016872639.1:p.Glu974Ala
XM_017017151.2:c.2810A>C	XP_016872640.1:p.Glu937Ala
XM_017017152.1:c.2810A>C	XP_016872641.1:p.Glu937Ala
XM_017017153.2:c.2810A>C	XP_016872642.1:p.Glu937Ala
XM_017017154.1:c.2579A>C	XP_016872643.1:p.Glu860Ala
XR_001747750.1:n.3190A>C
XR_001747751.1:n.3190A>C
XR_001747752.1:n.2946A>C
XR_001747753.1:n.3063A>C
XR_001747754.2:n.2587A>C
XR_001747755.2:n.2509A>C
XR_001747756.2:n.2522A>C
NM_007216.4:c.2579A>C	NP_009147.3:p.Glu860Ala
NM_181507.2:c.2921A>C MANE Select	NP_852608.1:p.Glu974Ala