Canonical Allele Identifier: CA342285337

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318924T>A (hg19) ; chr1:g.150346448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346448T>A , CM000663.2:g.150346448T>A	GRCh38
NC_000001.10:g.150318924T>A , CM000663.1:g.150318924T>A	GRCh37
NC_000001.9:g.148585548T>A	NCBI36
NG_008245.1:g.29997T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1800T>A MANE Select	ENSP00000315379.6:p.His600Gln
ENST00000324862.6:c.1800T>A	ENSP00000315379.6:p.His600Gln
ENST00000467329.5:n.2127T>A
ENST00000476970.1:n.909T>A
NM_004698.2:c.1800T>A	NP_004689.1:p.His600Gln
XM_011510128.1:c.1800T>A	XP_011508430.1:p.His600Gln
XM_011510129.1:c.1395T>A	XP_011508431.1:p.His465Gln
XM_011510130.1:c.1368T>A	XP_011508432.1:p.His456Gln
XR_241103.1:n.1783T>A
XR_921997.1:n.1783T>A
XR_921998.1:n.1897T>A
NM_001350529.1:c.1395T>A	NP_001337458.1:p.His465Gln
NM_004698.3:c.1800T>A	NP_004689.1:p.His600Gln
NR_146766.1:n.2031T>A
NR_146767.1:n.2127T>A
NR_146768.1:n.1973T>A
NR_146769.1:n.2026T>A
XM_011510130.3:c.1368T>A	XP_011508432.1:p.His456Gln
XM_017002790.1:c.1368T>A	XP_016858279.1:p.His456Gln
XR_001737536.2:n.1833T>A
XR_001737537.2:n.1947T>A
XR_001737540.2:n.2704T>A
XR_001737541.2:n.1727T>A
XR_002958009.1:n.2457T>A
XR_002958010.1:n.3693T>A
XR_002958012.1:n.1889T>A
XR_241103.3:n.1775T>A
XR_921997.3:n.1775T>A
XR_921998.3:n.1889T>A
NM_004698.4:c.1800T>A MANE Select	NP_004689.1:p.His600Gln