Canonical Allele Identifier: CA1054807972

Gene: HPS3

Linked Data

• dbSNP Id: rs1722749650
• gnomAD v3: 3-149145726-G-C
• gnomAD v4: 3-149145726-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145726G>C , CM000665.2:g.149145726G>C	GRCh38
NC_000003.11:g.148863513G>C , CM000665.1:g.148863513G>C	GRCh37
NC_000003.10:g.150346203G>C	NCBI36
NG_009847.1:g.21143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+180G>C MANE Select	ENSP00000296051.2:n.1163+180G>C
ENST00000296051.6:c.1163+180G>C	ENSP00000296051.2:n.1163+180G>C
ENST00000460120.5:c.668+180G>C	ENSP00000418230.1:n.668+180G>C
ENST00000462030.5:n.1762+180G>C
ENST00000486530.1:n.1196+180G>C
NM_001308258.1:c.668+180G>C	NP_001295187.1:n.668+180G>C
NM_032383.3:c.1163+180G>C	NP_115759.2:n.1163+180G>C
NM_032383.4:c.1163+180G>C	NP_115759.2:n.1163+180G>C
XM_005247834.3:c.1163+180G>C	XP_005247891.1:n.1163+180G>C
XM_006713788.1:c.1163+180G>C	XP_006713851.1:n.1163+180G>C
XR_924201.1:n.1278+180G>C
XM_005247834.4:c.1163+180G>C	XP_005247891.1:n.1163+180G>C
XM_017007323.2:c.1163+180G>C	XP_016862812.1:n.1163+180G>C
XR_001740326.2:n.1263+180G>C
XR_001740327.2:n.1263+180G>C
XR_001740328.2:n.1263+180G>C
XR_924201.3:n.1263+180G>C
NM_001308258.2:c.668+180G>C	NP_001295187.1:n.668+180G>C
NM_032383.5:c.1163+180G>C MANE Select	NP_115759.2:n.1163+180G>C