Canonical Allele Identifier: CA1075459

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150332966C>G , CM000663.2:g.150332966C>G	GRCh38
NC_000001.10:g.150305437C>G , CM000663.1:g.150305437C>G	GRCh37
NC_000001.9:g.148572061C>G	NCBI36
NG_008245.1:g.16510C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.508-13C>G MANE Select	NP_004689.1:n.508-13C>G
ENST00000324862.7:c.508-13C>G MANE Select	ENSP00000315379.6:n.508-13C>G
NM_001350529.1:c.103-13C>G	NP_001337458.1:n.103-13C>G
NM_004698.2:c.508-13C>G	NP_004689.1:n.508-13C>G
NM_004698.3:c.508-13C>G	NP_004689.1:n.508-13C>G
NR_146766.1:n.681-13C>G
NR_146767.1:n.777-13C>G
NR_146768.1:n.681-13C>G
NR_146769.1:n.681-13C>G
ENST00000324862.6:c.508-13C>G	ENSP00000315379.6:n.508-13C>G
ENST00000467329.5:n.777-13C>G
ENST00000467514.1:n.832-13C>G
ENST00000496202.5:n.766-13C>G
XM_011510128.1:c.508-13C>G	XP_011508430.1:n.508-13C>G
XM_011510129.1:c.103-13C>G	XP_011508431.1:n.103-13C>G
XM_011510130.1:c.76-13C>G	XP_011508432.1:n.76-13C>G
XM_011510130.3:c.76-13C>G	XP_011508432.1:n.76-13C>G
XM_011510131.1:c.508-13C>G	XP_011508433.1:n.508-13C>G
XM_011510131.3:c.508-13C>G	XP_011508433.1:n.508-13C>G
XM_011510132.1:c.508-13C>G	XP_011508434.1:n.508-13C>G
XM_011510132.3:c.508-13C>G	XP_011508434.1:n.508-13C>G
XM_017002790.1:c.76-13C>G	XP_016858279.1:n.76-13C>G
XM_017002791.2:c.508-13C>G	XP_016858280.1:n.508-13C>G
XR_001737536.2:n.602-13C>G
XR_001737537.2:n.602-13C>G
XR_001737540.2:n.1354-13C>G
XR_001737541.2:n.602-13C>G
XR_002958009.1:n.1107-13C>G
XR_002958010.1:n.602-13C>G
XR_002958012.1:n.602-13C>G
XR_241103.1:n.610-13C>G
XR_241103.3:n.602-13C>G
XR_241104.1:n.610-13C>G
XR_921997.1:n.610-13C>G
XR_921997.3:n.602-13C>G
XR_921998.1:n.610-13C>G
XR_921998.3:n.602-13C>G