Canonical Allele Identifier: CA1075385

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150325734G>A , CM000663.2:g.150325734G>A	GRCh38
NC_000001.10:g.150298192G>A , CM000663.1:g.150298192G>A	GRCh37
NC_000001.9:g.148564816G>A	NCBI36
NG_008245.1:g.9265G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.146-17G>A MANE Select	NP_004689.1:n.146-17G>A
ENST00000324862.7:c.146-17G>A MANE Select	ENSP00000315379.6:n.146-17G>A
NM_001350529.1:c.-356-17G>A	NP_001337458.1:n.-356-17G>A
NM_004698.2:c.146-17G>A	NP_004689.1:n.146-17G>A
NM_004698.3:c.146-17G>A	NP_004689.1:n.146-17G>A
NR_146766.1:n.319-17G>A
NR_146767.1:n.319-17G>A
NR_146768.1:n.319-17G>A
NR_146769.1:n.319-17G>A
ENST00000324862.6:c.146-17G>A	ENSP00000315379.6:n.146-17G>A
ENST00000496202.5:n.308-17G>A
XM_011510128.1:c.146-17G>A	XP_011508430.1:n.146-17G>A
XM_011510129.1:c.-356-17G>A	XP_011508431.1:n.-356-17G>A
XM_011510131.1:c.146-17G>A	XP_011508433.1:n.146-17G>A
XM_011510131.3:c.146-17G>A	XP_011508433.1:n.146-17G>A
XM_011510132.1:c.146-17G>A	XP_011508434.1:n.146-17G>A
XM_011510132.3:c.146-17G>A	XP_011508434.1:n.146-17G>A
XM_017002791.2:c.146-17G>A	XP_016858280.1:n.146-17G>A
XR_001737536.2:n.240-17G>A
XR_001737537.2:n.240-17G>A
XR_001737541.2:n.240-17G>A
XR_002958009.1:n.745-17G>A
XR_002958010.1:n.240-17G>A
XR_002958012.1:n.240-17G>A
XR_241103.1:n.248-17G>A
XR_241103.3:n.240-17G>A
XR_241104.1:n.248-17G>A
XR_921997.1:n.248-17G>A
XR_921997.3:n.240-17G>A
XR_921998.1:n.248-17G>A
XR_921998.3:n.240-17G>A