Canonical Allele Identifier: CA354921922
Gene: HPS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149157480T>A , CM000665.2:g.149157480T>A GRCh38
NC_000003.11:g.148875267T>A , CM000665.1:g.148875267T>A GRCh37
NC_000003.10:g.150357957T>A NCBI36
NG_009847.1:g.32897T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296051.7:c.1640T>A MANE Select ENSP00000296051.2:p.Leu547His
ENST00000296051.6:c.1640T>A ENSP00000296051.2:p.Leu547His
ENST00000460120.5:c.1145T>A ENSP00000418230.1:p.Leu382His
NM_001308258.1:c.1145T>A NP_001295187.1:p.Leu382His
NM_032383.3:c.1640T>A NP_115759.2:p.Leu547His
NM_032383.4:c.1640T>A NP_115759.2:p.Leu547His
XM_005247834.3:c.1640T>A XP_005247891.1:p.Leu547His
XM_006713788.1:c.1640T>A XP_006713851.1:p.Leu547His
XR_924201.1:n.1755T>A
XM_005247834.4:c.1640T>A XP_005247891.1:p.Leu547His
XM_017007323.2:c.1640T>A XP_016862812.1:p.Leu547His
XR_001740326.2:n.1740T>A
XR_001740327.2:n.1740T>A
XR_001740328.2:n.1740T>A
XR_924201.3:n.1740T>A
NM_001308258.2:c.1145T>A NP_001295187.1:p.Leu382His
NM_032383.5:c.1640T>A MANE Select NP_115759.2:p.Leu547His