Canonical Allele Identifier: CA2660148

Gene: HPS3

Linked Data

• ClinVar Variation Id: 1539116
• ClinVar RCV Id: RCV002176818
• dbSNP Id: rs755966280
• ExAC: 3:148875332 C / G
• gnomAD v2: 3-148875332-C-G
• gnomAD v3: 3-149157545-C-G
• gnomAD v4: 3-149157545-C-G
• MyVariant Identifiers: chr3:g.148875332C>G (hg19) ; chr3:g.149157545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157545C>G , CM000665.2:g.149157545C>G	GRCh38
NC_000003.11:g.148875332C>G , CM000665.1:g.148875332C>G	GRCh37
NC_000003.10:g.150358022C>G	NCBI36
NG_009847.1:g.32962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1691+14C>G MANE Select	ENSP00000296051.2:n.1691+14C>G
ENST00000296051.6:c.1691+14C>G	ENSP00000296051.2:n.1691+14C>G
ENST00000460120.5:c.1196+14C>G	ENSP00000418230.1:n.1196+14C>G
NM_001308258.1:c.1196+14C>G	NP_001295187.1:n.1196+14C>G
NM_032383.3:c.1691+14C>G	NP_115759.2:n.1691+14C>G
NM_032383.4:c.1691+14C>G	NP_115759.2:n.1691+14C>G
XM_005247834.3:c.1691+14C>G	XP_005247891.1:n.1691+14C>G
XM_006713788.1:c.1691+14C>G	XP_006713851.1:n.1691+14C>G
XR_924201.1:n.1806+14C>G
XM_005247834.4:c.1691+14C>G	XP_005247891.1:n.1691+14C>G
XM_017007323.2:c.1691+14C>G	XP_016862812.1:n.1691+14C>G
XR_001740326.2:n.1791+14C>G
XR_001740327.2:n.1791+14C>G
XR_001740328.2:n.1791+14C>G
XR_924201.3:n.1791+14C>G
NM_001308258.2:c.1196+14C>G	NP_001295187.1:n.1196+14C>G
NM_032383.5:c.1691+14C>G MANE Select	NP_115759.2:n.1691+14C>G