Canonical Allele Identifier: CA2660333

Gene: HPS3 CP

Linked Data

• ClinVar Variation Id: 742454
• ClinVar RCV Id: RCV000918715 ; RCV001832078
• dbSNP Id: rs149563235
• ExAC: 3:148880548 A / G
• gnomAD v2: 3-148880548-A-G
• gnomAD v3: 3-149162761-A-G
• gnomAD v4: 3-149162761-A-G
• MyVariant Identifiers: chr3:g.148880548A>G (hg19) ; chr3:g.149162761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149162761A>G , CM000665.2:g.149162761A>G	GRCh38
NC_000003.11:g.148880548A>G , CM000665.1:g.148880548A>G	GRCh37
NC_000003.10:g.150363238A>G	NCBI36
NG_009847.1:g.38178A>G
NG_011800.2:g.64285T>C
NG_011800.3:g.64285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.2364A>G (HPS3) MANE Select	ENSP00000296051.2:p.Ala788=
ENST00000296051.6:c.2364A>G (HPS3)	ENSP00000296051.2:p.Ala788=
ENST00000460120.5:c.1869A>G (HPS3)	ENSP00000418230.1:p.Ala623=
ENST00000460822.1:c.492A>G (HPS3)	ENSP00000419824.1:p.Ala164=
ENST00000479771.5:c.806T>C (CP)	ENSP00000420367.1:n.806T>C
ENST00000481169.5:c.*184T>C (CP)	ENSP00000418773.1:n.*184T>C
NM_001308258.1:c.1869A>G (HPS3)	NP_001295187.1:p.Ala623=
NM_032383.3:c.2364A>G (HPS3)	NP_115759.2:p.Ala788=
NM_032383.4:c.2364A>G (HPS3)	NP_115759.2:p.Ala788=
NR_046371.1:n.3278T>C (CP)
XM_005247834.3:c.*73A>G (HPS3)	XP_005247891.1:n.*73A>G
XM_006713499.2:c.*128T>C (CP)	XP_006713562.1:n.*128T>C
XM_006713788.1:c.2364A>G (HPS3)	XP_006713851.1:p.Ala788=
XM_011512435.1:c.*128T>C (CP)	XP_011510737.1:n.*128T>C
XR_427361.2:n.3496T>C (CP)
XR_924201.1:n.2479A>G (HPS3)
XM_005247834.4:c.*73A>G (HPS3)	XP_005247891.1:n.*73A>G
XM_006713499.3:c.*128T>C (CP)	XP_006713562.1:n.*128T>C
XM_011512435.2:c.*128T>C (CP)	XP_011510737.1:n.*128T>C
XM_017007323.2:c.2364A>G (HPS3)	XP_016862812.1:p.Ala788=
XR_001740326.2:n.2464A>G (HPS3)
XR_001740327.2:n.2464A>G (HPS3)
XR_001740328.2:n.2464A>G (HPS3)
XR_427361.3:n.3454T>C (CP)
XR_924201.3:n.2464A>G (HPS3)
NM_001308258.2:c.1869A>G (HPS3)	NP_001295187.1:p.Ala623=
NM_032383.5:c.2364A>G (HPS3) MANE Select	NP_115759.2:p.Ala788=
NR_046371.2:n.3062T>C (CP)