Canonical Allele Identifier: CA436206953

Gene: HPS3

Linked Data

• ClinVar Variation Id: 2140046
• ClinVar RCV Id: RCV003052916
• dbSNP Id: rs1723530390
• gnomAD v4: 3-149157517-G-T
• MyVariant Identifiers: chr3:g.148875304G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149157517G>T , CM000665.2:g.149157517G>T	GRCh38
NC_000003.11:g.148875304G>T , CM000665.1:g.148875304G>T	GRCh37
NC_000003.10:g.150357994G>T	NCBI36
NG_009847.1:g.32934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1677G>T MANE Select	ENSP00000296051.2:p.Gly559=
ENST00000296051.6:c.1677G>T	ENSP00000296051.2:p.Gly559=
ENST00000460120.5:c.1182G>T	ENSP00000418230.1:p.Gly394=
NM_001308258.1:c.1182G>T	NP_001295187.1:p.Gly394=
NM_032383.3:c.1677G>T	NP_115759.2:p.Gly559=
NM_032383.4:c.1677G>T	NP_115759.2:p.Gly559=
XM_005247834.3:c.1677G>T	XP_005247891.1:p.Gly559=
XM_006713788.1:c.1677G>T	XP_006713851.1:p.Gly559=
XR_924201.1:n.1792G>T
XM_005247834.4:c.1677G>T	XP_005247891.1:p.Gly559=
XM_017007323.2:c.1677G>T	XP_016862812.1:p.Gly559=
XR_001740326.2:n.1777G>T
XR_001740327.2:n.1777G>T
XR_001740328.2:n.1777G>T
XR_924201.3:n.1777G>T
NM_001308258.2:c.1182G>T	NP_001295187.1:p.Gly394=
NM_032383.5:c.1677G>T MANE Select	NP_115759.2:p.Gly559=