Canonical Allele Identifier: CA1007597147
Gene: PRPF3 HGNC NCBI

Linked Data

dbSNP Id: rs1572274991

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150346680G>T , CM000663.2:g.150346680G>T GRCh38
NC_000001.10:g.150319156G>T , CM000663.1:g.150319156G>T GRCh37
NC_000001.9:g.148585780G>T NCBI36
NG_008245.1:g.30229G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324862.7:c.1843+189G>T MANE Select ENSP00000315379.6:n.1843+189G>T
ENST00000324862.6:c.1843+189G>T ENSP00000315379.6:n.1843+189G>T
ENST00000467329.5:n.2170+189G>T
ENST00000476970.1:n.952+189G>T
NM_004698.2:c.1843+189G>T NP_004689.1:n.1843+189G>T
XM_011510128.1:c.1853+179G>T XP_011508430.1:n.1853+179G>T
XM_011510129.1:c.1438+189G>T XP_011508431.1:n.1438+189G>T
XM_011510130.1:c.1411+189G>T XP_011508432.1:n.1411+189G>T
XR_241103.1:n.1826+189G>T
XR_921997.1:n.1836+179G>T
XR_921998.1:n.1940+189G>T
NM_001350529.1:c.1438+189G>T NP_001337458.1:n.1438+189G>T
NM_004698.3:c.1843+189G>T NP_004689.1:n.1843+189G>T
NR_146766.1:n.2074+189G>T
NR_146767.1:n.2170+189G>T
NR_146768.1:n.2026+179G>T
NR_146769.1:n.2079+179G>T
XM_011510130.3:c.1411+189G>T XP_011508432.1:n.1411+189G>T
XM_017002790.1:c.1411+189G>T XP_016858279.1:n.1411+189G>T
XR_001737536.2:n.1876+189G>T
XR_001737537.2:n.1990+189G>T
XR_001737540.2:n.2747+189G>T
XR_001737541.2:n.1770+189G>T
XR_002958009.1:n.2500+189G>T
XR_002958010.1:n.3746+179G>T
XR_002958012.1:n.1942+179G>T
XR_241103.3:n.1818+189G>T
XR_921997.3:n.1828+179G>T
XR_921998.3:n.1932+189G>T
NM_004698.4:c.1843+189G>T MANE Select NP_004689.1:n.1843+189G>T