Canonical Allele Identifier: CA473369590

Gene: HPS5

Linked Data

• MyVariant Identifiers: chr11:g.18306946A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285399A>C , CM000673.2:g.18285399A>C	GRCh38
NC_000011.9:g.18306946A>C , CM000673.1:g.18306946A>C	GRCh37
NC_000011.8:g.18263522A>C	NCBI36
NG_008877.1:g.41776T>G , LRG_586:g.41776T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2898T>G MANE Select	ENSP00000265967.5:p.Leu966=
ENST00000349215.7:c.2898T>G	ENSP00000265967.5:p.Leu966=
ENST00000352460.7:n.1228+1192T>G
ENST00000396253.7:c.2556T>G	ENSP00000379552.3:p.Leu852=
ENST00000438420.6:c.2556T>G	ENSP00000399590.2:p.Leu852=
ENST00000537258.1:c.219T>G	ENSP00000437437.1:p.Leu73=
ENST00000544218.5:c.456T>G	ENSP00000441781.1:p.Leu152=
ENST00000545561.1:n.959T>G
NM_007216.3:c.2556T>G	NP_009147.3:p.Leu852=
NM_181507.1:c.2898T>G , LRG_586t1:c.2898T>G	NP_852608.1:p.Leu966=
NM_181508.1:c.2556T>G	NP_852609.1:p.Leu852=
XM_011519862.1:c.2898T>G	XP_011518164.1:p.Leu966=
XM_011519863.1:c.2898T>G	XP_011518165.1:p.Leu966=
XM_011519864.1:c.2898T>G	XP_011518166.1:p.Leu966=
XM_011519865.1:c.2787T>G	XP_011518167.1:p.Leu929=
XM_011519866.1:c.2556T>G	XP_011518168.1:p.Leu852=
XM_011519867.1:c.2556T>G	XP_011518169.1:p.Leu852=
XM_011519868.1:c.2556T>G	XP_011518170.1:p.Leu852=
XM_011519869.1:c.2898T>G	XP_011518171.1:p.Leu966=
XM_011519868.3:c.2556T>G	XP_011518170.1:p.Leu852=
XM_017017149.1:c.2898T>G	XP_016872638.1:p.Leu966=
XM_017017150.1:c.2898T>G	XP_016872639.1:p.Leu966=
XM_017017151.2:c.2787T>G	XP_016872640.1:p.Leu929=
XM_017017152.1:c.2787T>G	XP_016872641.1:p.Leu929=
XM_017017153.2:c.2787T>G	XP_016872642.1:p.Leu929=
XM_017017154.1:c.2556T>G	XP_016872643.1:p.Leu852=
XR_001747750.1:n.3167T>G
XR_001747751.1:n.3167T>G
XR_001747752.1:n.2923T>G
XR_001747753.1:n.3040T>G
XR_001747754.2:n.2564T>G
XR_001747755.2:n.2486T>G
XR_001747756.2:n.2499T>G
NM_007216.4:c.2556T>G	NP_009147.3:p.Leu852=
NM_181507.2:c.2898T>G MANE Select	NP_852608.1:p.Leu966=