Canonical Allele Identifier: CA526033765

Gene: PRPF3

Linked Data

• dbSNP Id: rs1553872984
• gnomAD v2: 1-150318977-G-C
• gnomAD v4: 1-150346501-G-C
• MyVariant Identifiers: chr1:g.150318977G>C (hg19) ; chr1:g.150346501G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346501G>C , CM000663.2:g.150346501G>C	GRCh38
NC_000001.10:g.150318977G>C , CM000663.1:g.150318977G>C	GRCh37
NC_000001.9:g.148585601G>C	NCBI36
NG_008245.1:g.30050G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+10G>C MANE Select	ENSP00000315379.6:n.1843+10G>C
ENST00000324862.6:c.1843+10G>C	ENSP00000315379.6:n.1843+10G>C
ENST00000467329.5:n.2170+10G>C
ENST00000476970.1:n.952+10G>C
NM_004698.2:c.1843+10G>C	NP_004689.1:n.1843+10G>C
XM_011510128.1:c.1853G>C	XP_011508430.1:p.Gly618Ala
XM_011510129.1:c.1438+10G>C	XP_011508431.1:n.1438+10G>C
XM_011510130.1:c.1411+10G>C	XP_011508432.1:n.1411+10G>C
XR_241103.1:n.1826+10G>C
XR_921997.1:n.1836G>C
XR_921998.1:n.1940+10G>C
NM_001350529.1:c.1438+10G>C	NP_001337458.1:n.1438+10G>C
NM_004698.3:c.1843+10G>C	NP_004689.1:n.1843+10G>C
NR_146766.1:n.2074+10G>C
NR_146767.1:n.2170+10G>C
NR_146768.1:n.2026G>C
NR_146769.1:n.2079G>C
XM_011510130.3:c.1411+10G>C	XP_011508432.1:n.1411+10G>C
XM_017002790.1:c.1411+10G>C	XP_016858279.1:n.1411+10G>C
XR_001737536.2:n.1876+10G>C
XR_001737537.2:n.1990+10G>C
XR_001737540.2:n.2747+10G>C
XR_001737541.2:n.1770+10G>C
XR_002958009.1:n.2500+10G>C
XR_002958010.1:n.3746G>C
XR_002958012.1:n.1942G>C
XR_241103.3:n.1818+10G>C
XR_921997.3:n.1828G>C
XR_921998.3:n.1932+10G>C
NM_004698.4:c.1843+10G>C MANE Select	NP_004689.1:n.1843+10G>C