Canonical Allele Identifier: CA85522889

Gene: CP HPS3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149173240A>G , CM000665.2:g.149173240A>G	GRCh38
NC_000003.11:g.148891027A>G , CM000665.1:g.148891027A>G	GRCh37
NC_000003.10:g.150373717A>G	NCBI36
NG_009847.1:g.48657A>G
NG_011800.1:g.53806T>C
NG_011800.2:g.53806T>C
NG_011800.3:g.53806T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000096.4:c.*474T>C (CP) MANE Select	NP_000087.2:n.*474T>C
NM_032383.5:c.*1018A>G (HPS3) MANE Select	NP_115759.2:n.*1018A>G
ENST00000264613.11:c.*474T>C (CP) MANE Select	ENSP00000264613.6:n.*474T>C
ENST00000296051.7:c.*1018A>G (HPS3) MANE Select	ENSP00000296051.2:n.*1018A>G
NM_000096.3:c.*474T>C (CP)	NP_000087.1:n.*474T>C
NM_001308258.2:c.*1018A>G (HPS3)	NP_001295187.1:n.*1018A>G
NM_032383.3:c.*1018A>G (HPS3)	NP_115759.2:n.*1018A>G
NR_046371.1:n.3058+4600T>C (CP)
NR_046371.2:n.2842+4600T>C (CP)
ENST00000264613.10:c.*474T>C (CP)	ENSP00000264613.6:n.*474T>C
ENST00000296051.6:c.*1018A>G (HPS3)	ENSP00000296051.2:n.*1018A>G
ENST00000460674.5:n.1528T>C (CP)
ENST00000479771.5:c.586+3010T>C (CP)	ENSP00000420367.1:n.586+3010T>C
ENST00000481169.5:c.2805+4600T>C (CP)	ENSP00000418773.1:n.2805+4600T>C
XM_006713499.2:c.3181+3010T>C (CP)	XP_006713562.1:n.3181+3010T>C
XM_006713499.3:c.3181+3010T>C (CP)	XP_006713562.1:n.3181+3010T>C
XM_006713500.4:c.*474T>C (CP)	XP_006713563.1:n.*474T>C
XM_011512435.1:c.3193+2998T>C (CP)	XP_011510737.1:n.3193+2998T>C
XM_011512435.2:c.3193+2998T>C (CP)	XP_011510737.1:n.3193+2998T>C
XM_017005735.2:c.*470T>C (CP)	XP_016861224.1:n.*470T>C
XR_427361.2:n.3276+4600T>C (CP)
XR_427361.3:n.3234+4600T>C (CP)