Canonical Allele Identifier: CA1410093851

Gene: HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145447A= , CM000665.2:g.149145447A=	GRCh38
NC_000003.11:g.148863234A= , CM000665.1:g.148863234A=	GRCh37
NC_000003.10:g.150345924A=	NCBI36
NG_009847.1:g.20864A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1064A= MANE Select	ENSP00000296051.2:p.Tyr355=
ENST00000296051.6:c.1064A=	ENSP00000296051.2:p.Tyr355=
ENST00000460120.5:c.569A=	ENSP00000418230.1:p.Tyr190=
ENST00000462030.5:n.1663A=
ENST00000486530.1:n.1097A=
NM_001308258.1:c.569A=	NP_001295187.1:p.Tyr190=
NM_032383.3:c.1064A=	NP_115759.2:p.Tyr355=
NM_032383.4:c.1064A=	NP_115759.2:p.Tyr355=
XM_005247834.3:c.1064A=	XP_005247891.1:p.Tyr355=
XM_006713788.1:c.1064A=	XP_006713851.1:p.Tyr355=
XR_924201.1:n.1179A=
XM_005247834.4:c.1064A=	XP_005247891.1:p.Tyr355=
XM_017007323.2:c.1064A=	XP_016862812.1:p.Tyr355=
XR_001740326.2:n.1164A=
XR_001740327.2:n.1164A=
XR_001740328.2:n.1164A=
XR_924201.3:n.1164A=
NM_001308258.2:c.569A=	NP_001295187.1:p.Tyr190=
NM_032383.5:c.1064A= MANE Select	NP_115759.2:p.Tyr355=