Canonical Allele Identifier: CA1410100373

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157504G= , CM000665.2:g.149157504G=	GRCh38
NC_000003.11:g.148875291G= , CM000665.1:g.148875291G=	GRCh37
NC_000003.10:g.150357981G=	NCBI36
NG_009847.1:g.32921G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1664G= MANE Select	ENSP00000296051.2:p.Cys555=
ENST00000296051.6:c.1664G=	ENSP00000296051.2:p.Cys555=
ENST00000460120.5:c.1169G=	ENSP00000418230.1:p.Cys390=
NM_001308258.1:c.1169G=	NP_001295187.1:p.Cys390=
NM_032383.3:c.1664G=	NP_115759.2:p.Cys555=
NM_032383.4:c.1664G=	NP_115759.2:p.Cys555=
XM_005247834.3:c.1664G=	XP_005247891.1:p.Cys555=
XM_006713788.1:c.1664G=	XP_006713851.1:p.Cys555=
XR_924201.1:n.1779G=
XM_005247834.4:c.1664G=	XP_005247891.1:p.Cys555=
XM_017007323.2:c.1664G=	XP_016862812.1:p.Cys555=
XR_001740326.2:n.1764G=
XR_001740327.2:n.1764G=
XR_001740328.2:n.1764G=
XR_924201.3:n.1764G=
NM_001308258.2:c.1169G=	NP_001295187.1:p.Cys390=
NM_032383.5:c.1664G= MANE Select	NP_115759.2:p.Cys555=