Canonical Allele Identifier: CA889231048

Gene: PRPF3

Linked Data

• dbSNP Id: rs1288139378
• gnomAD v3: 1-150346728-C-A
• gnomAD v4: 1-150346728-C-A
• MyVariant Identifiers: chr1:g.150346728C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346728C>A , CM000663.2:g.150346728C>A	GRCh38
NC_000001.10:g.150319204C>A , CM000663.1:g.150319204C>A	GRCh37
NC_000001.9:g.148585828C>A	NCBI36
NG_008245.1:g.30277C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+237C>A MANE Select	ENSP00000315379.6:n.1843+237C>A
ENST00000324862.6:c.1843+237C>A	ENSP00000315379.6:n.1843+237C>A
ENST00000467329.5:n.2170+237C>A
ENST00000476970.1:n.952+237C>A
NM_004698.2:c.1843+237C>A	NP_004689.1:n.1843+237C>A
XM_011510128.1:c.1853+227C>A	XP_011508430.1:n.1853+227C>A
XM_011510129.1:c.1438+237C>A	XP_011508431.1:n.1438+237C>A
XM_011510130.1:c.1411+237C>A	XP_011508432.1:n.1411+237C>A
XR_241103.1:n.1826+237C>A
XR_921997.1:n.1836+227C>A
XR_921998.1:n.1940+237C>A
NM_001350529.1:c.1438+237C>A	NP_001337458.1:n.1438+237C>A
NM_004698.3:c.1843+237C>A	NP_004689.1:n.1843+237C>A
NR_146766.1:n.2074+237C>A
NR_146767.1:n.2170+237C>A
NR_146768.1:n.2026+227C>A
NR_146769.1:n.2079+227C>A
XM_011510130.3:c.1411+237C>A	XP_011508432.1:n.1411+237C>A
XM_017002790.1:c.1411+237C>A	XP_016858279.1:n.1411+237C>A
XR_001737536.2:n.1876+237C>A
XR_001737537.2:n.1990+237C>A
XR_001737540.2:n.2747+237C>A
XR_001737541.2:n.1770+237C>A
XR_002958009.1:n.2500+237C>A
XR_002958010.1:n.3746+227C>A
XR_002958012.1:n.1942+227C>A
XR_241103.3:n.1818+237C>A
XR_921997.3:n.1828+227C>A
XR_921998.3:n.1932+237C>A
NM_004698.4:c.1843+237C>A MANE Select	NP_004689.1:n.1843+237C>A