Canonical Allele Identifier: CA342287888

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150349160A>C , CM000663.2:g.150349160A>C	GRCh38
NC_000001.10:g.150321636A>C , CM000663.1:g.150321636A>C	GRCh37
NC_000001.9:g.148588260A>C	NCBI36
NG_008245.1:g.32709A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.1847A>C MANE Select	NP_004689.1:p.Asp616Ala
ENST00000324862.7:c.1847A>C MANE Select	ENSP00000315379.6:p.Asp616Ala
NM_001350529.1:c.1442A>C	NP_001337458.1:p.Asp481Ala
NM_004698.2:c.1847A>C	NP_004689.1:p.Asp616Ala
NM_004698.3:c.1847A>C	NP_004689.1:p.Asp616Ala
NR_146766.1:n.2078A>C
NR_146767.1:n.2174A>C
NR_146768.1:n.2030A>C
NR_146769.1:n.2083A>C
ENST00000324862.6:c.1847A>C	ENSP00000315379.6:p.Asp616Ala
ENST00000467329.5:n.2174A>C
ENST00000470824.1:n.477A>C
ENST00000476970.1:n.956A>C
XM_011510128.1:c.1857A>C	XP_011508430.1:p.Ter619Cys
XM_011510129.1:c.1442A>C	XP_011508431.1:p.Asp481Ala
XM_011510130.1:c.1415A>C	XP_011508432.1:p.Asp472Ala
XM_011510130.3:c.1415A>C	XP_011508432.1:p.Asp472Ala
XM_017002790.1:c.1415A>C	XP_016858279.1:p.Asp472Ala
XR_001737536.2:n.1880A>C
XR_001737537.2:n.1994A>C
XR_001737540.2:n.2751A>C
XR_001737541.2:n.1774A>C
XR_002958009.1:n.2504A>C
XR_002958010.1:n.3750A>C
XR_002958012.1:n.1946A>C
XR_241103.1:n.1830A>C
XR_241103.3:n.1822A>C
XR_921997.1:n.1840A>C
XR_921997.3:n.1832A>C
XR_921998.1:n.1944A>C
XR_921998.3:n.1936A>C