Canonical Allele Identifier: CA2479117541
Gene: PRPF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150346415G= , CM000663.2:g.150346415G= GRCh38
NC_000001.10:g.150318891G= , CM000663.1:g.150318891G= GRCh37
NC_000001.9:g.148585515G= NCBI36
NG_008245.1:g.29964G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000324862.7:c.1767G= MANE Select ENSP00000315379.6:p.Lys589=
ENST00000324862.6:c.1767G= ENSP00000315379.6:p.Lys589=
ENST00000467329.5:n.2094G=
ENST00000476970.1:n.876G=
NM_004698.2:c.1767G= NP_004689.1:p.Lys589=
XM_011510128.1:c.1767G= XP_011508430.1:p.Lys589=
XM_011510129.1:c.1362G= XP_011508431.1:p.Lys454=
XM_011510130.1:c.1335G= XP_011508432.1:p.Lys445=
XR_241103.1:n.1750G=
XR_921997.1:n.1750G=
XR_921998.1:n.1864G=
NM_001350529.1:c.1362G= NP_001337458.1:p.Lys454=
NM_004698.3:c.1767G= NP_004689.1:p.Lys589=
NR_146766.1:n.1998G=
NR_146767.1:n.2094G=
NR_146768.1:n.1940G=
NR_146769.1:n.1993G=
XM_011510130.3:c.1335G= XP_011508432.1:p.Lys445=
XM_017002790.1:c.1335G= XP_016858279.1:p.Lys445=
XR_001737536.2:n.1800G=
XR_001737537.2:n.1914G=
XR_001737540.2:n.2671G=
XR_001737541.2:n.1694G=
XR_002958009.1:n.2424G=
XR_002958010.1:n.3660G=
XR_002958012.1:n.1856G=
XR_241103.3:n.1742G=
XR_921997.3:n.1742G=
XR_921998.3:n.1856G=
NM_004698.4:c.1767G= MANE Select NP_004689.1:p.Lys589=