Canonical Allele Identifier: CA354922191

Gene: HPS3

Linked Data

• dbSNP Id: rs767538487
• gnomAD v3: 3-149157522-G-A
• gnomAD v4: 3-149157522-G-A
• MyVariant Identifiers: chr3:g.148875309G>A (hg19) ; chr3:g.149157522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157522G>A , CM000665.2:g.149157522G>A	GRCh38
NC_000003.11:g.148875309G>A , CM000665.1:g.148875309G>A	GRCh37
NC_000003.10:g.150357999G>A	NCBI36
NG_009847.1:g.32939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1682G>A MANE Select	ENSP00000296051.2:p.Cys561Tyr
ENST00000296051.6:c.1682G>A	ENSP00000296051.2:p.Cys561Tyr
ENST00000460120.5:c.1187G>A	ENSP00000418230.1:p.Cys396Tyr
NM_001308258.1:c.1187G>A	NP_001295187.1:p.Cys396Tyr
NM_032383.3:c.1682G>A	NP_115759.2:p.Cys561Tyr
NM_032383.4:c.1682G>A	NP_115759.2:p.Cys561Tyr
XM_005247834.3:c.1682G>A	XP_005247891.1:p.Cys561Tyr
XM_006713788.1:c.1682G>A	XP_006713851.1:p.Cys561Tyr
XR_924201.1:n.1797G>A
XM_005247834.4:c.1682G>A	XP_005247891.1:p.Cys561Tyr
XM_017007323.2:c.1682G>A	XP_016862812.1:p.Cys561Tyr
XR_001740326.2:n.1782G>A
XR_001740327.2:n.1782G>A
XR_001740328.2:n.1782G>A
XR_924201.3:n.1782G>A
NM_001308258.2:c.1187G>A	NP_001295187.1:p.Cys396Tyr
NM_032383.5:c.1682G>A MANE Select	NP_115759.2:p.Cys561Tyr