Canonical Allele Identifier: CA30028341

Gene: PRPF3

Linked Data

• dbSNP Id: rs759999539
• MyVariant Identifiers: chr1:g.150319092A>C (hg19) ; chr1:g.150346616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346616A>C , CM000663.2:g.150346616A>C	GRCh38
NC_000001.10:g.150319092A>C , CM000663.1:g.150319092A>C	GRCh37
NC_000001.9:g.148585716A>C	NCBI36
NG_008245.1:g.30165A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+125A>C MANE Select	ENSP00000315379.6:n.1843+125A>C
ENST00000324862.6:c.1843+125A>C	ENSP00000315379.6:n.1843+125A>C
ENST00000467329.5:n.2170+125A>C
ENST00000476970.1:n.952+125A>C
NM_004698.2:c.1843+125A>C	NP_004689.1:n.1843+125A>C
XM_011510128.1:c.1853+115A>C	XP_011508430.1:n.1853+115A>C
XM_011510129.1:c.1438+125A>C	XP_011508431.1:n.1438+125A>C
XM_011510130.1:c.1411+125A>C	XP_011508432.1:n.1411+125A>C
XR_241103.1:n.1826+125A>C
XR_921997.1:n.1836+115A>C
XR_921998.1:n.1940+125A>C
NM_001350529.1:c.1438+125A>C	NP_001337458.1:n.1438+125A>C
NM_004698.3:c.1843+125A>C	NP_004689.1:n.1843+125A>C
NR_146766.1:n.2074+125A>C
NR_146767.1:n.2170+125A>C
NR_146768.1:n.2026+115A>C
NR_146769.1:n.2079+115A>C
XM_011510130.3:c.1411+125A>C	XP_011508432.1:n.1411+125A>C
XM_017002790.1:c.1411+125A>C	XP_016858279.1:n.1411+125A>C
XR_001737536.2:n.1876+125A>C
XR_001737537.2:n.1990+125A>C
XR_001737540.2:n.2747+125A>C
XR_001737541.2:n.1770+125A>C
XR_002958009.1:n.2500+125A>C
XR_002958010.1:n.3746+115A>C
XR_002958012.1:n.1942+115A>C
XR_241103.3:n.1818+125A>C
XR_921997.3:n.1828+115A>C
XR_921998.3:n.1932+125A>C
NM_004698.4:c.1843+125A>C MANE Select	NP_004689.1:n.1843+125A>C