Canonical Allele Identifier: CA354915873

Gene: HPS3

Linked Data

• dbSNP Id: rs1722737993
• gnomAD v4: 3-149145503-C-A
• MyVariant Identifiers: chr3:g.148863290C>A (hg19) ; chr3:g.149145503C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145503C>A , CM000665.2:g.149145503C>A	GRCh38
NC_000003.11:g.148863290C>A , CM000665.1:g.148863290C>A	GRCh37
NC_000003.10:g.150345980C>A	NCBI36
NG_009847.1:g.20920C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1120C>A MANE Select	ENSP00000296051.2:p.Gln374Lys
ENST00000296051.6:c.1120C>A	ENSP00000296051.2:p.Gln374Lys
ENST00000460120.5:c.625C>A	ENSP00000418230.1:p.Gln209Lys
ENST00000462030.5:n.1719C>A
ENST00000486530.1:n.1153C>A
NM_001308258.1:c.625C>A	NP_001295187.1:p.Gln209Lys
NM_032383.3:c.1120C>A	NP_115759.2:p.Gln374Lys
NM_032383.4:c.1120C>A	NP_115759.2:p.Gln374Lys
XM_005247834.3:c.1120C>A	XP_005247891.1:p.Gln374Lys
XM_006713788.1:c.1120C>A	XP_006713851.1:p.Gln374Lys
XR_924201.1:n.1235C>A
XM_005247834.4:c.1120C>A	XP_005247891.1:p.Gln374Lys
XM_017007323.2:c.1120C>A	XP_016862812.1:p.Gln374Lys
XR_001740326.2:n.1220C>A
XR_001740327.2:n.1220C>A
XR_001740328.2:n.1220C>A
XR_924201.3:n.1220C>A
NM_001308258.2:c.625C>A	NP_001295187.1:p.Gln209Lys
NM_032383.5:c.1120C>A MANE Select	NP_115759.2:p.Gln374Lys