Canonical Allele Identifier: CA341513

Gene: HPS3 CP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149170483G>A , CM000665.2:g.149170483G>A	GRCh38
NC_000003.11:g.148888270G>A , CM000665.1:g.148888270G>A	GRCh37
NC_000003.10:g.150370960G>A	NCBI36
NG_009847.1:g.45900G>A
NG_011800.2:g.56563C>T
NG_011800.3:g.56563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.2888-1612G>A (HPS3) MANE Select	ENSP00000296051.2:n.2888-1612G>A
ENST00000296051.6:c.2888-1612G>A (HPS3)	ENSP00000296051.2:n.2888-1612G>A
ENST00000460120.5:c.2393-1612G>A (HPS3)	ENSP00000418230.1:n.2393-1612G>A
ENST00000460822.1:c.1001G>A (HPS3)	ENSP00000419824.1:n.1001G>A
ENST00000479771.5:c.587-4433C>T (CP)	ENSP00000420367.1:n.587-4433C>T
ENST00000481169.5:c.2806-4433C>T (CP)	ENSP00000418773.1:n.2806-4433C>T
NM_001308258.1:c.2393-1612G>A (HPS3)	NP_001295187.1:n.2393-1612G>A
NM_032383.3:c.2888-1612G>A (HPS3)	NP_115759.2:n.2888-1612G>A
NM_032383.4:c.2888-1612G>A (HPS3)	NP_115759.2:n.2888-1612G>A
NR_046371.1:n.3059-4433C>T (CP)
XM_006713499.2:c.3182-4433C>T (CP)	XP_006713562.1:n.3182-4433C>T
XM_011512435.1:c.3194-4433C>T (CP)	XP_011510737.1:n.3194-4433C>T
XR_427361.2:n.3277-4433C>T (CP)
XM_006713499.3:c.3182-4433C>T (CP)	XP_006713562.1:n.3182-4433C>T
XM_011512435.2:c.3194-4433C>T (CP)	XP_011510737.1:n.3194-4433C>T
XM_017007323.2:c.*8G>A (HPS3)	XP_016862812.1:n.*8G>A
XR_001740326.2:n.2992-1612G>A (HPS3)
XR_001740327.2:n.3004G>A (HPS3)
XR_001740328.2:n.2957-1612G>A (HPS3)
XR_427361.3:n.3235-4433C>T (CP)
NM_001308258.2:c.2393-1612G>A (HPS3)	NP_001295187.1:n.2393-1612G>A
NM_032383.5:c.2888-1612G>A (HPS3) MANE Select	NP_115759.2:n.2888-1612G>A
NR_046371.2:n.2843-4433C>T (CP)