Canonical Allele Identifier: CA379514324

Gene: HPS5

Linked Data

• MyVariant Identifiers: chr11:g.18306896C>G (hg19) ; chr11:g.18285349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18285349C>G , CM000673.2:g.18285349C>G	GRCh38
NC_000011.9:g.18306896C>G , CM000673.1:g.18306896C>G	GRCh37
NC_000011.8:g.18263472C>G	NCBI36
NG_008877.1:g.41826G>C , LRG_586:g.41826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349215.8:c.2948G>C MANE Select	ENSP00000265967.5:p.Cys983Ser
ENST00000349215.7:c.2948G>C	ENSP00000265967.5:p.Cys983Ser
ENST00000352460.7:n.1228+1242G>C
ENST00000396253.7:c.2606G>C	ENSP00000379552.3:p.Cys869Ser
ENST00000438420.6:c.2606G>C	ENSP00000399590.2:p.Cys869Ser
ENST00000537258.1:c.269G>C	ENSP00000437437.1:p.Cys90Ser
ENST00000545561.1:n.1009G>C
NM_007216.3:c.2606G>C	NP_009147.3:p.Cys869Ser
NM_181507.1:c.2948G>C , LRG_586t1:c.2948G>C	NP_852608.1:p.Cys983Ser
NM_181508.1:c.2606G>C	NP_852609.1:p.Cys869Ser
XM_011519862.1:c.2948G>C	XP_011518164.1:p.Cys983Ser
XM_011519863.1:c.2948G>C	XP_011518165.1:p.Cys983Ser
XM_011519864.1:c.2948G>C	XP_011518166.1:p.Cys983Ser
XM_011519865.1:c.2837G>C	XP_011518167.1:p.Cys946Ser
XM_011519866.1:c.2606G>C	XP_011518168.1:p.Cys869Ser
XM_011519867.1:c.2606G>C	XP_011518169.1:p.Cys869Ser
XM_011519868.1:c.2606G>C	XP_011518170.1:p.Cys869Ser
XM_011519869.1:c.2948G>C	XP_011518171.1:p.Cys983Ser
XM_011519868.3:c.2606G>C	XP_011518170.1:p.Cys869Ser
XM_017017149.1:c.2948G>C	XP_016872638.1:p.Cys983Ser
XM_017017150.1:c.2948G>C	XP_016872639.1:p.Cys983Ser
XM_017017151.2:c.2837G>C	XP_016872640.1:p.Cys946Ser
XM_017017152.1:c.2837G>C	XP_016872641.1:p.Cys946Ser
XM_017017153.2:c.2837G>C	XP_016872642.1:p.Cys946Ser
XM_017017154.1:c.2606G>C	XP_016872643.1:p.Cys869Ser
XR_001747750.1:n.3217G>C
XR_001747751.1:n.3217G>C
XR_001747752.1:n.2973G>C
XR_001747753.1:n.3090G>C
XR_001747754.2:n.2614G>C
XR_001747755.2:n.2536G>C
XR_001747756.2:n.2549G>C
NM_007216.4:c.2606G>C	NP_009147.3:p.Cys869Ser
NM_181507.2:c.2948G>C MANE Select	NP_852608.1:p.Cys983Ser