Canonical Allele Identifier: CA526033781

Gene: PRPF3

Linked Data

• dbSNP Id: rs1191521031
• gnomAD v2: 1-150319004-A-G
• gnomAD v3: 1-150346528-A-G
• gnomAD v4: 1-150346528-A-G
• MyVariant Identifiers: chr1:g.150319004A>G (hg19) ; chr1:g.150346528A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346528A>G , CM000663.2:g.150346528A>G	GRCh38
NC_000001.10:g.150319004A>G , CM000663.1:g.150319004A>G	GRCh37
NC_000001.9:g.148585628A>G	NCBI36
NG_008245.1:g.30077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+37A>G MANE Select	ENSP00000315379.6:n.1843+37A>G
ENST00000324862.6:c.1843+37A>G	ENSP00000315379.6:n.1843+37A>G
ENST00000467329.5:n.2170+37A>G
ENST00000476970.1:n.952+37A>G
NM_004698.2:c.1843+37A>G	NP_004689.1:n.1843+37A>G
XM_011510128.1:c.1853+27A>G	XP_011508430.1:n.1853+27A>G
XM_011510129.1:c.1438+37A>G	XP_011508431.1:n.1438+37A>G
XM_011510130.1:c.1411+37A>G	XP_011508432.1:n.1411+37A>G
XR_241103.1:n.1826+37A>G
XR_921997.1:n.1836+27A>G
XR_921998.1:n.1940+37A>G
NM_001350529.1:c.1438+37A>G	NP_001337458.1:n.1438+37A>G
NM_004698.3:c.1843+37A>G	NP_004689.1:n.1843+37A>G
NR_146766.1:n.2074+37A>G
NR_146767.1:n.2170+37A>G
NR_146768.1:n.2026+27A>G
NR_146769.1:n.2079+27A>G
XM_011510130.3:c.1411+37A>G	XP_011508432.1:n.1411+37A>G
XM_017002790.1:c.1411+37A>G	XP_016858279.1:n.1411+37A>G
XR_001737536.2:n.1876+37A>G
XR_001737537.2:n.1990+37A>G
XR_001737540.2:n.2747+37A>G
XR_001737541.2:n.1770+37A>G
XR_002958009.1:n.2500+37A>G
XR_002958010.1:n.3746+27A>G
XR_002958012.1:n.1942+27A>G
XR_241103.3:n.1818+37A>G
XR_921997.3:n.1828+27A>G
XR_921998.3:n.1932+37A>G
NM_004698.4:c.1843+37A>G MANE Select	NP_004689.1:n.1843+37A>G