Canonical Allele Identifier: CA546936903

Gene: HPS3

Linked Data

• dbSNP Id: rs1163235651
• gnomAD v2: 3-148863412-T-C
• gnomAD v4: 3-149145625-T-C
• MyVariant Identifiers: chr3:g.148863412T>C (hg19) ; chr3:g.149145625T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145625T>C , CM000665.2:g.149145625T>C	GRCh38
NC_000003.11:g.148863412T>C , CM000665.1:g.148863412T>C	GRCh37
NC_000003.10:g.150346102T>C	NCBI36
NG_009847.1:g.21042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1163+79T>C MANE Select	ENSP00000296051.2:n.1163+79T>C
ENST00000296051.6:c.1163+79T>C	ENSP00000296051.2:n.1163+79T>C
ENST00000460120.5:c.668+79T>C	ENSP00000418230.1:n.668+79T>C
ENST00000462030.5:n.1762+79T>C
ENST00000486530.1:n.1196+79T>C
NM_001308258.1:c.668+79T>C	NP_001295187.1:n.668+79T>C
NM_032383.3:c.1163+79T>C	NP_115759.2:n.1163+79T>C
NM_032383.4:c.1163+79T>C	NP_115759.2:n.1163+79T>C
XM_005247834.3:c.1163+79T>C	XP_005247891.1:n.1163+79T>C
XM_006713788.1:c.1163+79T>C	XP_006713851.1:n.1163+79T>C
XR_924201.1:n.1278+79T>C
XM_005247834.4:c.1163+79T>C	XP_005247891.1:n.1163+79T>C
XM_017007323.2:c.1163+79T>C	XP_016862812.1:n.1163+79T>C
XR_001740326.2:n.1263+79T>C
XR_001740327.2:n.1263+79T>C
XR_001740328.2:n.1263+79T>C
XR_924201.3:n.1263+79T>C
NM_001308258.2:c.668+79T>C	NP_001295187.1:n.668+79T>C
NM_032383.5:c.1163+79T>C MANE Select	NP_115759.2:n.1163+79T>C