Canonical Allele Identifier: CA2668134974

Gene: HPS3

Linked Data

• gnomAD v4: 3-149157623-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157623A>G , CM000665.2:g.149157623A>G	GRCh38
NC_000003.11:g.148875410A>G , CM000665.1:g.148875410A>G	GRCh37
NC_000003.10:g.150358100A>G	NCBI36
NG_009847.1:g.33040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1691+92A>G MANE Select	ENSP00000296051.2:n.1691+92A>G
ENST00000296051.6:c.1691+92A>G	ENSP00000296051.2:n.1691+92A>G
ENST00000460120.5:c.1196+92A>G	ENSP00000418230.1:n.1196+92A>G
NM_001308258.1:c.1196+92A>G	NP_001295187.1:n.1196+92A>G
NM_032383.3:c.1691+92A>G	NP_115759.2:n.1691+92A>G
NM_032383.4:c.1691+92A>G	NP_115759.2:n.1691+92A>G
XM_005247834.3:c.1691+92A>G	XP_005247891.1:n.1691+92A>G
XM_006713788.1:c.1691+92A>G	XP_006713851.1:n.1691+92A>G
XR_924201.1:n.1806+92A>G
XM_005247834.4:c.1691+92A>G	XP_005247891.1:n.1691+92A>G
XM_017007323.2:c.1691+92A>G	XP_016862812.1:n.1691+92A>G
XR_001740326.2:n.1791+92A>G
XR_001740327.2:n.1791+92A>G
XR_001740328.2:n.1791+92A>G
XR_924201.3:n.1791+92A>G
NM_001308258.2:c.1196+92A>G	NP_001295187.1:n.1196+92A>G
NM_032383.5:c.1691+92A>G MANE Select	NP_115759.2:n.1691+92A>G