Canonical Allele Identifier: CA340271

Gene: HPS3 CP

Linked Data

• ClinVar Variation Id: 4611
• ClinVar RCV Id: RCV000004874 ; RCV001384936 ; RCV001831513
• dbSNP Id: rs397507168
• ExAC: 3:148881627 A / G
• gnomAD v2: 3-148881627-A-G
• gnomAD v4: 3-149163840-A-G
• MyVariant Identifiers: chr3:g.148881627A>G (hg19) ; chr3:g.149163840A>G (hg38)
• PubMed: PMID:11590544 ; PMID:20301464

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149163840A>G , CM000665.2:g.149163840A>G	GRCh38
NC_000003.11:g.148881627A>G , CM000665.1:g.148881627A>G	GRCh37
NC_000003.10:g.150364317A>G	NCBI36
NG_009847.1:g.39257A>G
NG_011800.2:g.63206T>C
NG_011800.3:g.63206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.2482-2A>G (HPS3) MANE Select	ENSP00000296051.2:n.2482-2A>G
ENST00000296051.6:c.2482-2A>G (HPS3)	ENSP00000296051.2:n.2482-2A>G
ENST00000460120.5:c.1987-2A>G (HPS3)	ENSP00000418230.1:n.1987-2A>G
ENST00000460822.1:c.610-2A>G (HPS3)	ENSP00000419824.1:n.610-2A>G
ENST00000479771.5:c.692-965T>C (CP)	ENSP00000420367.1:n.692-965T>C
ENST00000481169.5:c.*70-965T>C (CP)	ENSP00000418773.1:n.*70-965T>C
NM_001308258.1:c.1987-2A>G (HPS3)	NP_001295187.1:n.1987-2A>G
NM_032383.3:c.2482-2A>G (HPS3)	NP_115759.2:n.2482-2A>G
NM_032383.4:c.2482-2A>G (HPS3)	NP_115759.2:n.2482-2A>G
NR_046371.1:n.3164-965T>C (CP)
XM_006713499.2:c.*14-965T>C (CP)	XP_006713562.1:n.*14-965T>C
XM_006713788.1:c.2482-2A>G (HPS3)	XP_006713851.1:n.2482-2A>G
XM_011512435.1:c.*14-965T>C (CP)	XP_011510737.1:n.*14-965T>C
XR_427361.2:n.3382-965T>C (CP)
XR_924201.1:n.2597-2A>G (HPS3)
XM_006713499.3:c.*14-965T>C (CP)	XP_006713562.1:n.*14-965T>C
XM_011512435.2:c.*14-965T>C (CP)	XP_011510737.1:n.*14-965T>C
XM_017007323.2:c.2482-2A>G (HPS3)	XP_016862812.1:n.2482-2A>G
XR_001740326.2:n.2582-2A>G (HPS3)
XR_001740327.2:n.2582-2A>G (HPS3)
XR_001740328.2:n.2582-2A>G (HPS3)
XR_427361.3:n.3340-965T>C (CP)
XR_924201.3:n.2582-2A>G (HPS3)
NM_001308258.2:c.1987-2A>G (HPS3)	NP_001295187.1:n.1987-2A>G
NM_032383.5:c.2482-2A>G (HPS3) MANE Select	NP_115759.2:n.2482-2A>G
NR_046371.2:n.2948-965T>C (CP)