Canonical Allele Identifier: CA2660386

Gene: HPS3 CP

Linked Data

• ClinVar Variation Id: 756752
• ClinVar RCV Id: RCV000934277 ; RCV001144197 ; RCV001273478
• dbSNP Id: rs150765088
• ExAC: 3:148881674 G / A
• gnomAD v2: 3-148881674-G-A
• gnomAD v3: 3-149163887-G-A
• gnomAD v4: 3-149163887-G-A
• MyVariant Identifiers: chr3:g.148881674G>A (hg19) ; chr3:g.149163887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149163887G>A , CM000665.2:g.149163887G>A	GRCh38
NC_000003.11:g.148881674G>A , CM000665.1:g.148881674G>A	GRCh37
NC_000003.10:g.150364364G>A	NCBI36
NG_009847.1:g.39304G>A
NG_011800.2:g.63159C>T
NG_011800.3:g.63159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.2527G>A (HPS3) MANE Select	ENSP00000296051.2:p.Val843Ile
ENST00000296051.6:c.2527G>A (HPS3)	ENSP00000296051.2:p.Val843Ile
ENST00000460120.5:c.2032G>A (HPS3)	ENSP00000418230.1:p.Val678Ile
ENST00000460822.1:c.655G>A (HPS3)	ENSP00000419824.1:p.Val219Ile
ENST00000479771.5:c.692-1012C>T (CP)	ENSP00000420367.1:n.692-1012C>T
ENST00000481169.5:c.*70-1012C>T (CP)	ENSP00000418773.1:n.*70-1012C>T
NM_001308258.1:c.2032G>A (HPS3)	NP_001295187.1:p.Val678Ile
NM_032383.3:c.2527G>A (HPS3)	NP_115759.2:p.Val843Ile
NM_032383.4:c.2527G>A (HPS3)	NP_115759.2:p.Val843Ile
NR_046371.1:n.3164-1012C>T (CP)
XM_006713499.2:c.*14-1012C>T (CP)	XP_006713562.1:n.*14-1012C>T
XM_006713788.1:c.2527G>A (HPS3)	XP_006713851.1:p.Val843Ile
XM_011512435.1:c.*14-1012C>T (CP)	XP_011510737.1:n.*14-1012C>T
XR_427361.2:n.3382-1012C>T (CP)
XR_924201.1:n.2642G>A (HPS3)
XM_006713499.3:c.*14-1012C>T (CP)	XP_006713562.1:n.*14-1012C>T
XM_011512435.2:c.*14-1012C>T (CP)	XP_011510737.1:n.*14-1012C>T
XM_017007323.2:c.2527G>A (HPS3)	XP_016862812.1:p.Val843Ile
XR_001740326.2:n.2627G>A (HPS3)
XR_001740327.2:n.2627G>A (HPS3)
XR_001740328.2:n.2627G>A (HPS3)
XR_427361.3:n.3340-1012C>T (CP)
XR_924201.3:n.2627G>A (HPS3)
NM_001308258.2:c.2032G>A (HPS3)	NP_001295187.1:p.Val678Ile
NM_032383.5:c.2527G>A (HPS3) MANE Select	NP_115759.2:p.Val843Ile
NR_046371.2:n.2948-1012C>T (CP)