Canonical Allele Identifier: CA354915761

Gene: HPS3

Linked Data

• MyVariant Identifiers: chr3:g.148863239G>C (hg19) ; chr3:g.149145452G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145452G>C , CM000665.2:g.149145452G>C	GRCh38
NC_000003.11:g.148863239G>C , CM000665.1:g.148863239G>C	GRCh37
NC_000003.10:g.150345929G>C	NCBI36
NG_009847.1:g.20869G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1069G>C MANE Select	ENSP00000296051.2:p.Val357Leu
ENST00000296051.6:c.1069G>C	ENSP00000296051.2:p.Val357Leu
ENST00000460120.5:c.574G>C	ENSP00000418230.1:p.Val192Leu
ENST00000462030.5:n.1668G>C
ENST00000486530.1:n.1102G>C
NM_001308258.1:c.574G>C	NP_001295187.1:p.Val192Leu
NM_032383.3:c.1069G>C	NP_115759.2:p.Val357Leu
NM_032383.4:c.1069G>C	NP_115759.2:p.Val357Leu
XM_005247834.3:c.1069G>C	XP_005247891.1:p.Val357Leu
XM_006713788.1:c.1069G>C	XP_006713851.1:p.Val357Leu
XR_924201.1:n.1184G>C
XM_005247834.4:c.1069G>C	XP_005247891.1:p.Val357Leu
XM_017007323.2:c.1069G>C	XP_016862812.1:p.Val357Leu
XR_001740326.2:n.1169G>C
XR_001740327.2:n.1169G>C
XR_001740328.2:n.1169G>C
XR_924201.3:n.1169G>C
NM_001308258.2:c.574G>C	NP_001295187.1:p.Val192Leu
NM_032383.5:c.1069G>C MANE Select	NP_115759.2:p.Val357Leu