Canonical Allele Identifier: CA354921864

Gene: HPS3

Linked Data

• ClinVar Variation Id: 1725146
• ClinVar RCV Id: RCV002308205
• MyVariant Identifiers: chr3:g.148875254G>T (hg19) ; chr3:g.149157467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157467G>T , CM000665.2:g.149157467G>T	GRCh38
NC_000003.11:g.148875254G>T , CM000665.1:g.148875254G>T	GRCh37
NC_000003.10:g.150357944G>T	NCBI36
NG_009847.1:g.32884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1627G>T MANE Select	ENSP00000296051.2:p.Glu543Ter
ENST00000296051.6:c.1627G>T	ENSP00000296051.2:p.Glu543Ter
ENST00000460120.5:c.1132G>T	ENSP00000418230.1:p.Glu378Ter
NM_001308258.1:c.1132G>T	NP_001295187.1:p.Glu378Ter
NM_032383.3:c.1627G>T	NP_115759.2:p.Glu543Ter
NM_032383.4:c.1627G>T	NP_115759.2:p.Glu543Ter
XM_005247834.3:c.1627G>T	XP_005247891.1:p.Glu543Ter
XM_006713788.1:c.1627G>T	XP_006713851.1:p.Glu543Ter
XR_924201.1:n.1742G>T
XM_005247834.4:c.1627G>T	XP_005247891.1:p.Glu543Ter
XM_017007323.2:c.1627G>T	XP_016862812.1:p.Glu543Ter
XR_001740326.2:n.1727G>T
XR_001740327.2:n.1727G>T
XR_001740328.2:n.1727G>T
XR_924201.3:n.1727G>T
NM_001308258.2:c.1132G>T	NP_001295187.1:p.Glu378Ter
NM_032383.5:c.1627G>T MANE Select	NP_115759.2:p.Glu543Ter