Canonical Allele Identifier: CA342279239

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150343307A>G , CM000663.2:g.150343307A>G	GRCh38
NC_000001.10:g.150315783A>G , CM000663.1:g.150315783A>G	GRCh37
NC_000001.9:g.148582407A>G	NCBI36
NG_008245.1:g.26856A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.1283-2A>G MANE Select	NP_004689.1:n.1283-2A>G
ENST00000324862.7:c.1283-2A>G MANE Select	ENSP00000315379.6:n.1283-2A>G
NM_001350529.1:c.878-2A>G	NP_001337458.1:n.878-2A>G
NM_004698.2:c.1283-2A>G	NP_004689.1:n.1283-2A>G
NM_004698.3:c.1283-2A>G	NP_004689.1:n.1283-2A>G
NR_146766.1:n.1456-2A>G
NR_146767.1:n.1552-2A>G
NR_146768.1:n.1456-2A>G
NR_146769.1:n.1451-2A>G
ENST00000324862.6:c.1283-2A>G	ENSP00000315379.6:n.1283-2A>G
ENST00000467329.5:n.1552-2A>G
ENST00000493553.1:n.157A>G
XM_011510128.1:c.1283-2A>G	XP_011508430.1:n.1283-2A>G
XM_011510129.1:c.878-2A>G	XP_011508431.1:n.878-2A>G
XM_011510130.1:c.851-2A>G	XP_011508432.1:n.851-2A>G
XM_011510130.3:c.851-2A>G	XP_011508432.1:n.851-2A>G
XM_017002790.1:c.851-2A>G	XP_016858279.1:n.851-2A>G
XR_001737536.2:n.1377-2A>G
XR_001737537.2:n.1372-2A>G
XR_001737540.2:n.2129-2A>G
XR_001737541.2:n.1210-2A>G
XR_002958009.1:n.1882-2A>G
XR_002958010.1:n.1377-2A>G
XR_002958012.1:n.1372-2A>G
XR_241103.1:n.1385-2A>G
XR_241103.3:n.1377-2A>G
XR_241104.1:n.1385-2A>G
XR_921997.1:n.1385-2A>G
XR_921997.3:n.1377-2A>G
XR_921998.1:n.1380-2A>G
XR_921998.3:n.1372-2A>G