Canonical Allele Identifier: CA2647799559

Gene: PRPF3

Linked Data

• gnomAD v4: 1-150346600-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346600A>T , CM000663.2:g.150346600A>T	GRCh38
NC_000001.10:g.150319076A>T , CM000663.1:g.150319076A>T	GRCh37
NC_000001.9:g.148585700A>T	NCBI36
NG_008245.1:g.30149A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+109A>T MANE Select	ENSP00000315379.6:n.1843+109A>T
ENST00000324862.6:c.1843+109A>T	ENSP00000315379.6:n.1843+109A>T
ENST00000467329.5:n.2170+109A>T
ENST00000476970.1:n.952+109A>T
NM_004698.2:c.1843+109A>T	NP_004689.1:n.1843+109A>T
XM_011510128.1:c.1853+99A>T	XP_011508430.1:n.1853+99A>T
XM_011510129.1:c.1438+109A>T	XP_011508431.1:n.1438+109A>T
XM_011510130.1:c.1411+109A>T	XP_011508432.1:n.1411+109A>T
XR_241103.1:n.1826+109A>T
XR_921997.1:n.1836+99A>T
XR_921998.1:n.1940+109A>T
NM_001350529.1:c.1438+109A>T	NP_001337458.1:n.1438+109A>T
NM_004698.3:c.1843+109A>T	NP_004689.1:n.1843+109A>T
NR_146766.1:n.2074+109A>T
NR_146767.1:n.2170+109A>T
NR_146768.1:n.2026+99A>T
NR_146769.1:n.2079+99A>T
XM_011510130.3:c.1411+109A>T	XP_011508432.1:n.1411+109A>T
XM_017002790.1:c.1411+109A>T	XP_016858279.1:n.1411+109A>T
XR_001737536.2:n.1876+109A>T
XR_001737537.2:n.1990+109A>T
XR_001737540.2:n.2747+109A>T
XR_001737541.2:n.1770+109A>T
XR_002958009.1:n.2500+109A>T
XR_002958010.1:n.3746+99A>T
XR_002958012.1:n.1942+99A>T
XR_241103.3:n.1818+109A>T
XR_921997.3:n.1828+99A>T
XR_921998.3:n.1932+109A>T
NM_004698.4:c.1843+109A>T MANE Select	NP_004689.1:n.1843+109A>T