Canonical Allele Identifier: CA5909813

Gene: HPS5

Linked Data

• ClinVar Variation Id: 303873
• ClinVar RCV Id: RCV000408073 ; RCV001509808 ; RCV003317188
• dbSNP Id: rs199999276
• ExAC: 11:18309251 C / G
• gnomAD v2: 11-18309251-C-G
• gnomAD v3: 11-18287704-C-G
• gnomAD v4: 11-18287704-C-G
• MyVariant Identifiers: chr11:g.18309251C>G (hg19) ; chr11:g.18287704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18287704C>G , CM000673.2:g.18287704C>G	GRCh38
NC_000011.9:g.18309251C>G , CM000673.1:g.18309251C>G	GRCh37
NC_000011.8:g.18265827C>G	NCBI36
NG_008877.1:g.39471G>C , LRG_586:g.39471G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2562-14G>C MANE Select	ENSP00000265967.5:n.2562-14G>C
ENST00000349215.7:c.2562-14G>C	ENSP00000265967.5:n.2562-14G>C
ENST00000352460.7:n.953-14G>C
ENST00000396253.7:c.2220-14G>C	ENSP00000379552.3:n.2220-14G>C
ENST00000438420.6:c.2220-14G>C	ENSP00000399590.2:n.2220-14G>C
ENST00000544218.5:c.120-14G>C	ENSP00000441781.1:n.120-14G>C
ENST00000545561.1:n.623-14G>C
NM_007216.3:c.2220-14G>C	NP_009147.3:n.2220-14G>C
NM_181507.1:c.2562-14G>C , LRG_586t1:c.2562-14G>C	NP_852608.1:n.2562-14G>C
NM_181508.1:c.2220-14G>C	NP_852609.1:n.2220-14G>C
XM_011519862.1:c.2562-14G>C	XP_011518164.1:n.2562-14G>C
XM_011519863.1:c.2562-14G>C	XP_011518165.1:n.2562-14G>C
XM_011519864.1:c.2562-14G>C	XP_011518166.1:n.2562-14G>C
XM_011519865.1:c.2451-14G>C	XP_011518167.1:n.2451-14G>C
XM_011519866.1:c.2220-14G>C	XP_011518168.1:n.2220-14G>C
XM_011519867.1:c.2220-14G>C	XP_011518169.1:n.2220-14G>C
XM_011519868.1:c.2220-14G>C	XP_011518170.1:n.2220-14G>C
XM_011519869.1:c.2562-14G>C	XP_011518171.1:n.2562-14G>C
XM_011519870.1:c.*46-14G>C	XP_011518172.1:n.*46-14G>C
XM_011519871.1:c.*46-14G>C	XP_011518173.1:n.*46-14G>C
XM_011519868.3:c.2220-14G>C	XP_011518170.1:n.2220-14G>C
XM_017017149.1:c.2562-14G>C	XP_016872638.1:n.2562-14G>C
XM_017017150.1:c.2562-14G>C	XP_016872639.1:n.2562-14G>C
XM_017017151.2:c.2451-14G>C	XP_016872640.1:n.2451-14G>C
XM_017017152.1:c.2451-14G>C	XP_016872641.1:n.2451-14G>C
XM_017017153.2:c.2451-14G>C	XP_016872642.1:n.2451-14G>C
XM_017017154.1:c.2220-14G>C	XP_016872643.1:n.2220-14G>C
XR_001747750.1:n.2831-14G>C
XR_001747751.1:n.2831-14G>C
XR_001747752.1:n.2587-14G>C
XR_001747753.1:n.2704-14G>C
XR_001747754.2:n.2228-14G>C
XR_001747755.2:n.2150-14G>C
XR_001747756.2:n.2163-14G>C
NM_007216.4:c.2220-14G>C	NP_009147.3:n.2220-14G>C
NM_181507.2:c.2562-14G>C MANE Select	NP_852608.1:n.2562-14G>C