Canonical Allele Identifier: CA2660007
Gene: HPS3 HGNC NCBI

Linked Data

dbSNP Id: rs771171459

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149145542A>T , CM000665.2:g.149145542A>T GRCh38
NC_000003.11:g.148863329A>T , CM000665.1:g.148863329A>T GRCh37
NC_000003.10:g.150346019A>T NCBI36
NG_009847.1:g.20959A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296051.7:c.1159A>T MANE Select ENSP00000296051.2:p.Thr387Ser
ENST00000296051.6:c.1159A>T ENSP00000296051.2:p.Thr387Ser
ENST00000460120.5:c.664A>T ENSP00000418230.1:p.Thr222Ser
ENST00000462030.5:n.1758A>T
ENST00000486530.1:n.1192A>T
NM_001308258.1:c.664A>T NP_001295187.1:p.Thr222Ser
NM_032383.3:c.1159A>T NP_115759.2:p.Thr387Ser
NM_032383.4:c.1159A>T NP_115759.2:p.Thr387Ser
XM_005247834.3:c.1159A>T XP_005247891.1:p.Thr387Ser
XM_006713788.1:c.1159A>T XP_006713851.1:p.Thr387Ser
XR_924201.1:n.1274A>T
XM_005247834.4:c.1159A>T XP_005247891.1:p.Thr387Ser
XM_017007323.2:c.1159A>T XP_016862812.1:p.Thr387Ser
XR_001740326.2:n.1259A>T
XR_001740327.2:n.1259A>T
XR_001740328.2:n.1259A>T
XR_924201.3:n.1259A>T
NM_001308258.2:c.664A>T NP_001295187.1:p.Thr222Ser
NM_032383.5:c.1159A>T MANE Select NP_115759.2:p.Thr387Ser