Canonical Allele Identifier: CA2660147

Gene: HPS3

Linked Data

• dbSNP Id: rs570420255
• ExAC: 3:148875323 G / A
• gnomAD v2: 3-148875323-G-A
• gnomAD v3: 3-149157536-G-A
• gnomAD v4: 3-149157536-G-A
• MyVariant Identifiers: chr3:g.148875323G>A (hg19) ; chr3:g.149157536G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157536G>A , CM000665.2:g.149157536G>A	GRCh38
NC_000003.11:g.148875323G>A , CM000665.1:g.148875323G>A	GRCh37
NC_000003.10:g.150358013G>A	NCBI36
NG_009847.1:g.32953G>A

Transcript Alleles

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