Canonical Allele Identifier: CA176296

Gene: HPS3 CP

Linked Data

• ClinVar Variation Id: 163669
• ClinVar RCV Id: RCV000150817 ; RCV000379483 ; RCV001273477 ; RCV001515321
• dbSNP Id: rs3732557
• ExAC: 3:148881673 C / T
• gnomAD v2: 3-148881673-C-T
• gnomAD v3: 3-149163886-C-T
• gnomAD v4: 3-149163886-C-T
• MyVariant Identifiers: chr3:g.148881673C>T (hg19) ; chr3:g.149163886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149163886C>T , CM000665.2:g.149163886C>T	GRCh38
NC_000003.11:g.148881673C>T , CM000665.1:g.148881673C>T	GRCh37
NC_000003.10:g.150364363C>T	NCBI36
NG_009847.1:g.39303C>T
NG_011800.2:g.63160G>A
NG_011800.3:g.63160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.2526C>T (HPS3) MANE Select	ENSP00000296051.2:p.His842=
ENST00000296051.6:c.2526C>T (HPS3)	ENSP00000296051.2:p.His842=
ENST00000460120.5:c.2031C>T (HPS3)	ENSP00000418230.1:p.His677=
ENST00000460822.1:c.654C>T (HPS3)	ENSP00000419824.1:p.His218=
ENST00000479771.5:c.692-1011G>A (CP)	ENSP00000420367.1:n.692-1011G>A
ENST00000481169.5:c.*70-1011G>A (CP)	ENSP00000418773.1:n.*70-1011G>A
NM_001308258.1:c.2031C>T (HPS3)	NP_001295187.1:p.His677=
NM_032383.3:c.2526C>T (HPS3)	NP_115759.2:p.His842=
NM_032383.4:c.2526C>T (HPS3)	NP_115759.2:p.His842=
NR_046371.1:n.3164-1011G>A (CP)
XM_006713499.2:c.*14-1011G>A (CP)	XP_006713562.1:n.*14-1011G>A
XM_006713788.1:c.2526C>T (HPS3)	XP_006713851.1:p.His842=
XM_011512435.1:c.*14-1011G>A (CP)	XP_011510737.1:n.*14-1011G>A
XR_427361.2:n.3382-1011G>A (CP)
XR_924201.1:n.2641C>T (HPS3)
XM_006713499.3:c.*14-1011G>A (CP)	XP_006713562.1:n.*14-1011G>A
XM_011512435.2:c.*14-1011G>A (CP)	XP_011510737.1:n.*14-1011G>A
XM_017007323.2:c.2526C>T (HPS3)	XP_016862812.1:p.His842=
XR_001740326.2:n.2626C>T (HPS3)
XR_001740327.2:n.2626C>T (HPS3)
XR_001740328.2:n.2626C>T (HPS3)
XR_427361.3:n.3340-1011G>A (CP)
XR_924201.3:n.2626C>T (HPS3)
NM_001308258.2:c.2031C>T (HPS3)	NP_001295187.1:p.His677=
NM_032383.5:c.2526C>T (HPS3) MANE Select	NP_115759.2:p.His842=
NR_046371.2:n.2948-1011G>A (CP)