Canonical Allele Identifier: CA85521979

Gene: HPS3 CP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149172040A>T , CM000665.2:g.149172040A>T	GRCh38
NC_000003.11:g.148889827A>T , CM000665.1:g.148889827A>T	GRCh37
NC_000003.10:g.150372517A>T	NCBI36
NG_009847.1:g.47457A>T
NG_011800.1:g.55006T>A
NG_011800.2:g.55006T>A
NG_011800.3:g.55006T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032383.5:c.2888-55A>T (HPS3) MANE Select	NP_115759.2:n.2888-55A>T
ENST00000296051.7:c.2888-55A>T (HPS3) MANE Select	ENSP00000296051.2:n.2888-55A>T
NM_001308258.1:c.2393-55A>T (HPS3)	NP_001295187.1:n.2393-55A>T
NM_001308258.2:c.2393-55A>T (HPS3)	NP_001295187.1:n.2393-55A>T
NM_032383.3:c.2888-55A>T (HPS3)	NP_115759.2:n.2888-55A>T
NM_032383.4:c.2888-55A>T (HPS3)	NP_115759.2:n.2888-55A>T
NR_046371.1:n.3058+5800T>A (CP)
NR_046371.2:n.2842+5800T>A (CP)
ENST00000296051.6:c.2888-55A>T (HPS3)	ENSP00000296051.2:n.2888-55A>T
ENST00000460120.5:c.2393-55A>T (HPS3)	ENSP00000418230.1:n.2393-55A>T
ENST00000460822.1:c.1092-55A>T (HPS3)	ENSP00000419824.1:n.1092-55A>T
ENST00000479771.5:c.586+4210T>A (CP)	ENSP00000420367.1:n.586+4210T>A
ENST00000481169.5:c.2805+5800T>A (CP)	ENSP00000418773.1:n.2805+5800T>A
XM_006713499.2:c.3181+4210T>A (CP)	XP_006713562.1:n.3181+4210T>A
XM_006713499.3:c.3181+4210T>A (CP)	XP_006713562.1:n.3181+4210T>A
XM_011512435.1:c.3193+4198T>A (CP)	XP_011510737.1:n.3193+4198T>A
XM_011512435.2:c.3193+4198T>A (CP)	XP_011510737.1:n.3193+4198T>A
XR_001740326.2:n.2992-55A>T (HPS3)
XR_001740328.2:n.2957-55A>T (HPS3)
XR_427361.2:n.3276+5800T>A (CP)
XR_427361.3:n.3234+5800T>A (CP)