Canonical Allele Identifier: CA5909700

Gene: HPS5

Linked Data

• dbSNP Id: rs764047205
• ExAC: 11:18306911 T / G
• gnomAD v2: 11-18306911-T-G
• gnomAD v4: 11-18285364-T-G
• MyVariant Identifiers: chr11:g.18306911T>G (hg19) ; chr11:g.18285364T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285364T>G , CM000673.2:g.18285364T>G	GRCh38
NC_000011.9:g.18306911T>G , CM000673.1:g.18306911T>G	GRCh37
NC_000011.8:g.18263487T>G	NCBI36
NG_008877.1:g.41811A>C , LRG_586:g.41811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2933A>C MANE Select	ENSP00000265967.5:p.Asp978Ala
ENST00000349215.7:c.2933A>C	ENSP00000265967.5:p.Asp978Ala
ENST00000352460.7:n.1228+1227A>C
ENST00000396253.7:c.2591A>C	ENSP00000379552.3:p.Asp864Ala
ENST00000438420.6:c.2591A>C	ENSP00000399590.2:p.Asp864Ala
ENST00000537258.1:c.254A>C	ENSP00000437437.1:p.Asp85Ala
ENST00000545561.1:n.994A>C
NM_007216.3:c.2591A>C	NP_009147.3:p.Asp864Ala
NM_181507.1:c.2933A>C , LRG_586t1:c.2933A>C	NP_852608.1:p.Asp978Ala
NM_181508.1:c.2591A>C	NP_852609.1:p.Asp864Ala
XM_011519862.1:c.2933A>C	XP_011518164.1:p.Asp978Ala
XM_011519863.1:c.2933A>C	XP_011518165.1:p.Asp978Ala
XM_011519864.1:c.2933A>C	XP_011518166.1:p.Asp978Ala
XM_011519865.1:c.2822A>C	XP_011518167.1:p.Asp941Ala
XM_011519866.1:c.2591A>C	XP_011518168.1:p.Asp864Ala
XM_011519867.1:c.2591A>C	XP_011518169.1:p.Asp864Ala
XM_011519868.1:c.2591A>C	XP_011518170.1:p.Asp864Ala
XM_011519869.1:c.2933A>C	XP_011518171.1:p.Asp978Ala
XM_011519868.3:c.2591A>C	XP_011518170.1:p.Asp864Ala
XM_017017149.1:c.2933A>C	XP_016872638.1:p.Asp978Ala
XM_017017150.1:c.2933A>C	XP_016872639.1:p.Asp978Ala
XM_017017151.2:c.2822A>C	XP_016872640.1:p.Asp941Ala
XM_017017152.1:c.2822A>C	XP_016872641.1:p.Asp941Ala
XM_017017153.2:c.2822A>C	XP_016872642.1:p.Asp941Ala
XM_017017154.1:c.2591A>C	XP_016872643.1:p.Asp864Ala
XR_001747750.1:n.3202A>C
XR_001747751.1:n.3202A>C
XR_001747752.1:n.2958A>C
XR_001747753.1:n.3075A>C
XR_001747754.2:n.2599A>C
XR_001747755.2:n.2521A>C
XR_001747756.2:n.2534A>C
NM_007216.4:c.2591A>C	NP_009147.3:p.Asp864Ala
NM_181507.2:c.2933A>C MANE Select	NP_852608.1:p.Asp978Ala