Canonical Allele Identifier: CA420682788

Gene: PRPF3

Linked Data

• dbSNP Id: rs1658279691
• gnomAD v4: 1-150346457-G-A
• MyVariant Identifiers: chr1:g.150318933G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346457G>A , CM000663.2:g.150346457G>A	GRCh38
NC_000001.10:g.150318933G>A , CM000663.1:g.150318933G>A	GRCh37
NC_000001.9:g.148585557G>A	NCBI36
NG_008245.1:g.30006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1809G>A MANE Select	ENSP00000315379.6:p.Lys603=
ENST00000324862.6:c.1809G>A	ENSP00000315379.6:p.Lys603=
ENST00000467329.5:n.2136G>A
ENST00000476970.1:n.918G>A
NM_004698.2:c.1809G>A	NP_004689.1:p.Lys603=
XM_011510128.1:c.1809G>A	XP_011508430.1:p.Lys603=
XM_011510129.1:c.1404G>A	XP_011508431.1:p.Lys468=
XM_011510130.1:c.1377G>A	XP_011508432.1:p.Lys459=
XR_241103.1:n.1792G>A
XR_921997.1:n.1792G>A
XR_921998.1:n.1906G>A
NM_001350529.1:c.1404G>A	NP_001337458.1:p.Lys468=
NM_004698.3:c.1809G>A	NP_004689.1:p.Lys603=
NR_146766.1:n.2040G>A
NR_146767.1:n.2136G>A
NR_146768.1:n.1982G>A
NR_146769.1:n.2035G>A
XM_011510130.3:c.1377G>A	XP_011508432.1:p.Lys459=
XM_017002790.1:c.1377G>A	XP_016858279.1:p.Lys459=
XR_001737536.2:n.1842G>A
XR_001737537.2:n.1956G>A
XR_001737540.2:n.2713G>A
XR_001737541.2:n.1736G>A
XR_002958009.1:n.2466G>A
XR_002958010.1:n.3702G>A
XR_002958012.1:n.1898G>A
XR_241103.3:n.1784G>A
XR_921997.3:n.1784G>A
XR_921998.3:n.1898G>A
NM_004698.4:c.1809G>A MANE Select	NP_004689.1:p.Lys603=