Canonical Allele Identifier: CA354915771

Gene: HPS3

Linked Data

• MyVariant Identifiers: chr3:g.148863245A>C (hg19) ; chr3:g.149145458A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145458A>C , CM000665.2:g.149145458A>C	GRCh38
NC_000003.11:g.148863245A>C , CM000665.1:g.148863245A>C	GRCh37
NC_000003.10:g.150345935A>C	NCBI36
NG_009847.1:g.20875A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1075A>C MANE Select	ENSP00000296051.2:p.Lys359Gln
ENST00000296051.6:c.1075A>C	ENSP00000296051.2:p.Lys359Gln
ENST00000460120.5:c.580A>C	ENSP00000418230.1:p.Lys194Gln
ENST00000462030.5:n.1674A>C
ENST00000486530.1:n.1108A>C
NM_001308258.1:c.580A>C	NP_001295187.1:p.Lys194Gln
NM_032383.3:c.1075A>C	NP_115759.2:p.Lys359Gln
NM_032383.4:c.1075A>C	NP_115759.2:p.Lys359Gln
XM_005247834.3:c.1075A>C	XP_005247891.1:p.Lys359Gln
XM_006713788.1:c.1075A>C	XP_006713851.1:p.Lys359Gln
XR_924201.1:n.1190A>C
XM_005247834.4:c.1075A>C	XP_005247891.1:p.Lys359Gln
XM_017007323.2:c.1075A>C	XP_016862812.1:p.Lys359Gln
XR_001740326.2:n.1175A>C
XR_001740327.2:n.1175A>C
XR_001740328.2:n.1175A>C
XR_924201.3:n.1175A>C
NM_001308258.2:c.580A>C	NP_001295187.1:p.Lys194Gln
NM_032383.5:c.1075A>C MANE Select	NP_115759.2:p.Lys359Gln