Canonical Allele Identifier: CA1410100339

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157479C= , CM000665.2:g.149157479C=	GRCh38
NC_000003.11:g.148875266C= , CM000665.1:g.148875266C=	GRCh37
NC_000003.10:g.150357956C=	NCBI36
NG_009847.1:g.32896C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1639C= MANE Select	ENSP00000296051.2:p.Leu547=
ENST00000296051.6:c.1639C=	ENSP00000296051.2:p.Leu547=
ENST00000460120.5:c.1144C=	ENSP00000418230.1:p.Leu382=
NM_001308258.1:c.1144C=	NP_001295187.1:p.Leu382=
NM_032383.3:c.1639C=	NP_115759.2:p.Leu547=
NM_032383.4:c.1639C=	NP_115759.2:p.Leu547=
XM_005247834.3:c.1639C=	XP_005247891.1:p.Leu547=
XM_006713788.1:c.1639C=	XP_006713851.1:p.Leu547=
XR_924201.1:n.1754C=
XM_005247834.4:c.1639C=	XP_005247891.1:p.Leu547=
XM_017007323.2:c.1639C=	XP_016862812.1:p.Leu547=
XR_001740326.2:n.1739C=
XR_001740327.2:n.1739C=
XR_001740328.2:n.1739C=
XR_924201.3:n.1739C=
NM_001308258.2:c.1144C=	NP_001295187.1:p.Leu382=
NM_032383.5:c.1639C= MANE Select	NP_115759.2:p.Leu547=