Canonical Allele Identifier: CA354922141

Gene: HPS3

Linked Data

• ClinVar Variation Id: 1489544
• ClinVar RCV Id: RCV001980678
• dbSNP Id: rs1352957239
• gnomAD v3: 3-149157513-T-G
• gnomAD v4: 3-149157513-T-G
• MyVariant Identifiers: chr3:g.148875300T>G (hg19) ; chr3:g.149157513T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157513T>G , CM000665.2:g.149157513T>G	GRCh38
NC_000003.11:g.148875300T>G , CM000665.1:g.148875300T>G	GRCh37
NC_000003.10:g.150357990T>G	NCBI36
NG_009847.1:g.32930T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1673T>G MANE Select	ENSP00000296051.2:p.Leu558Arg
ENST00000296051.6:c.1673T>G	ENSP00000296051.2:p.Leu558Arg
ENST00000460120.5:c.1178T>G	ENSP00000418230.1:p.Leu393Arg
NM_001308258.1:c.1178T>G	NP_001295187.1:p.Leu393Arg
NM_032383.3:c.1673T>G	NP_115759.2:p.Leu558Arg
NM_032383.4:c.1673T>G	NP_115759.2:p.Leu558Arg
XM_005247834.3:c.1673T>G	XP_005247891.1:p.Leu558Arg
XM_006713788.1:c.1673T>G	XP_006713851.1:p.Leu558Arg
XR_924201.1:n.1788T>G
XM_005247834.4:c.1673T>G	XP_005247891.1:p.Leu558Arg
XM_017007323.2:c.1673T>G	XP_016862812.1:p.Leu558Arg
XR_001740326.2:n.1773T>G
XR_001740327.2:n.1773T>G
XR_001740328.2:n.1773T>G
XR_924201.3:n.1773T>G
NM_001308258.2:c.1178T>G	NP_001295187.1:p.Leu393Arg
NM_032383.5:c.1673T>G MANE Select	NP_115759.2:p.Leu558Arg