Canonical Allele Identifier: CA354924234

Gene: HPS3 CP

Linked Data

• ClinVar Variation Id: 1478743
• ClinVar RCV Id: RCV002019091
• dbSNP Id: rs2108170158
• MyVariant Identifiers: chr3:g.148880476G>A (hg19) ; chr3:g.149162689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149162689G>A , CM000665.2:g.149162689G>A	GRCh38
NC_000003.11:g.148880476G>A , CM000665.1:g.148880476G>A	GRCh37
NC_000003.10:g.150363166G>A	NCBI36
NG_009847.1:g.38106G>A
NG_011800.2:g.64357C>T
NG_011800.3:g.64357C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.2293-1G>A (HPS3) MANE Select	ENSP00000296051.2:n.2293-1G>A
ENST00000296051.6:c.2293-1G>A (HPS3)	ENSP00000296051.2:n.2293-1G>A
ENST00000460120.5:c.1798-1G>A (HPS3)	ENSP00000418230.1:n.1798-1G>A
ENST00000460822.1:c.421-1G>A (HPS3)	ENSP00000419824.1:n.421-1G>A
ENST00000479771.5:c.878C>T (CP)	ENSP00000420367.1:n.878C>T
ENST00000481169.5:c.*256C>T (CP)	ENSP00000418773.1:n.*256C>T
NM_001308258.1:c.1798-1G>A (HPS3)	NP_001295187.1:n.1798-1G>A
NM_032383.3:c.2293-1G>A (HPS3)	NP_115759.2:n.2293-1G>A
NM_032383.4:c.2293-1G>A (HPS3)	NP_115759.2:n.2293-1G>A
NR_046371.1:n.3350C>T (CP)
XM_005247834.3:c.*1G>A (HPS3)	XP_005247891.1:n.*1G>A
XM_006713499.2:c.*200C>T (CP)	XP_006713562.1:n.*200C>T
XM_006713788.1:c.2293-1G>A (HPS3)	XP_006713851.1:n.2293-1G>A
XM_011512435.1:c.*200C>T (CP)	XP_011510737.1:n.*200C>T
XR_427361.2:n.3568C>T (CP)
XR_924201.1:n.2408-1G>A (HPS3)
XM_005247834.4:c.*1G>A (HPS3)	XP_005247891.1:n.*1G>A
XM_006713499.3:c.*200C>T (CP)	XP_006713562.1:n.*200C>T
XM_011512435.2:c.*200C>T (CP)	XP_011510737.1:n.*200C>T
XM_017007323.2:c.2293-1G>A (HPS3)	XP_016862812.1:n.2293-1G>A
XR_001740326.2:n.2393-1G>A (HPS3)
XR_001740327.2:n.2393-1G>A (HPS3)
XR_001740328.2:n.2393-1G>A (HPS3)
XR_427361.3:n.3526C>T (CP)
XR_924201.3:n.2393-1G>A (HPS3)
NM_001308258.2:c.1798-1G>A (HPS3)	NP_001295187.1:n.1798-1G>A
NM_032383.5:c.2293-1G>A (HPS3) MANE Select	NP_115759.2:n.2293-1G>A
NR_046371.2:n.3134C>T (CP)