Canonical Allele Identifier: CA342282375

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150344231A>C , CM000663.2:g.150344231A>C	GRCh38
NC_000001.10:g.150316707A>C , CM000663.1:g.150316707A>C	GRCh37
NC_000001.9:g.148583331A>C	NCBI36
NG_008245.1:g.27780A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.1496A>C MANE Select	NP_004689.1:p.His499Pro
ENST00000324862.7:c.1496A>C MANE Select	ENSP00000315379.6:p.His499Pro
NM_001350529.1:c.1091A>C	NP_001337458.1:p.His364Pro
NM_004698.2:c.1496A>C	NP_004689.1:p.His499Pro
NM_004698.3:c.1496A>C	NP_004689.1:p.His499Pro
NR_146766.1:n.1669A>C
NR_146767.1:n.1765A>C
NR_146768.1:n.1669A>C
NR_146769.1:n.1664A>C
ENST00000324862.6:c.1496A>C	ENSP00000315379.6:p.His499Pro
ENST00000467329.5:n.1765A>C
ENST00000493553.1:n.372A>C
XM_011510128.1:c.1496A>C	XP_011508430.1:p.His499Pro
XM_011510129.1:c.1091A>C	XP_011508431.1:p.His364Pro
XM_011510130.1:c.1064A>C	XP_011508432.1:p.His355Pro
XM_011510130.3:c.1064A>C	XP_011508432.1:p.His355Pro
XM_017002790.1:c.1064A>C	XP_016858279.1:p.His355Pro
XR_001737536.2:n.1590A>C
XR_001737537.2:n.1585A>C
XR_001737540.2:n.2342A>C
XR_001737541.2:n.1423A>C
XR_002958009.1:n.2095A>C
XR_002958010.1:n.1590A>C
XR_002958012.1:n.1585A>C
XR_241103.1:n.1598A>C
XR_241103.3:n.1590A>C
XR_241104.1:n.1598A>C
XR_921997.1:n.1598A>C
XR_921997.3:n.1590A>C
XR_921998.1:n.1593A>C
XR_921998.3:n.1585A>C