Canonical Allele Identifier: CA2660006

Gene: HPS3

Linked Data

• ClinVar Variation Id: 343702
• ClinVar RCV Id: RCV000400485 ; RCV002523248
• dbSNP Id: rs749726836
• ExAC: 3:148863323 G / A
• gnomAD v2: 3-148863323-G-A
• gnomAD v3: 3-149145536-G-A
• gnomAD v4: 3-149145536-G-A
• MyVariant Identifiers: chr3:g.148863323G>A (hg19) ; chr3:g.149145536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145536G>A , CM000665.2:g.149145536G>A	GRCh38
NC_000003.11:g.148863323G>A , CM000665.1:g.148863323G>A	GRCh37
NC_000003.10:g.150346013G>A	NCBI36
NG_009847.1:g.20953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1153G>A MANE Select	ENSP00000296051.2:p.Val385Ile
ENST00000296051.6:c.1153G>A	ENSP00000296051.2:p.Val385Ile
ENST00000460120.5:c.658G>A	ENSP00000418230.1:p.Val220Ile
ENST00000462030.5:n.1752G>A
ENST00000486530.1:n.1186G>A
NM_001308258.1:c.658G>A	NP_001295187.1:p.Val220Ile
NM_032383.3:c.1153G>A	NP_115759.2:p.Val385Ile
NM_032383.4:c.1153G>A	NP_115759.2:p.Val385Ile
XM_005247834.3:c.1153G>A	XP_005247891.1:p.Val385Ile
XM_006713788.1:c.1153G>A	XP_006713851.1:p.Val385Ile
XR_924201.1:n.1268G>A
XM_005247834.4:c.1153G>A	XP_005247891.1:p.Val385Ile
XM_017007323.2:c.1153G>A	XP_016862812.1:p.Val385Ile
XR_001740326.2:n.1253G>A
XR_001740327.2:n.1253G>A
XR_001740328.2:n.1253G>A
XR_924201.3:n.1253G>A
NM_001308258.2:c.658G>A	NP_001295187.1:p.Val220Ile
NM_032383.5:c.1153G>A MANE Select	NP_115759.2:p.Val385Ile