Canonical Allele Identifier: CA342282465

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150344239G>C , CM000663.2:g.150344239G>C	GRCh38
NC_000001.10:g.150316715G>C , CM000663.1:g.150316715G>C	GRCh37
NC_000001.9:g.148583339G>C	NCBI36
NG_008245.1:g.27788G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.1504G>C MANE Select	NP_004689.1:p.Ala502Pro
ENST00000324862.7:c.1504G>C MANE Select	ENSP00000315379.6:p.Ala502Pro
NM_001350529.1:c.1099G>C	NP_001337458.1:p.Ala367Pro
NM_004698.2:c.1504G>C	NP_004689.1:p.Ala502Pro
NM_004698.3:c.1504G>C	NP_004689.1:p.Ala502Pro
NR_146766.1:n.1677G>C
NR_146767.1:n.1773G>C
NR_146768.1:n.1677G>C
NR_146769.1:n.1672G>C
ENST00000324862.6:c.1504G>C	ENSP00000315379.6:p.Ala502Pro
ENST00000467329.5:n.1773G>C
ENST00000493553.1:n.380G>C
XM_011510128.1:c.1504G>C	XP_011508430.1:p.Ala502Pro
XM_011510129.1:c.1099G>C	XP_011508431.1:p.Ala367Pro
XM_011510130.1:c.1072G>C	XP_011508432.1:p.Ala358Pro
XM_011510130.3:c.1072G>C	XP_011508432.1:p.Ala358Pro
XM_017002790.1:c.1072G>C	XP_016858279.1:p.Ala358Pro
XR_001737536.2:n.1598G>C
XR_001737537.2:n.1593G>C
XR_001737540.2:n.2350G>C
XR_001737541.2:n.1431G>C
XR_002958009.1:n.2103G>C
XR_002958010.1:n.1598G>C
XR_002958012.1:n.1593G>C
XR_241103.1:n.1606G>C
XR_241103.3:n.1598G>C
XR_241104.1:n.1606G>C
XR_921997.1:n.1606G>C
XR_921997.3:n.1598G>C
XR_921998.1:n.1601G>C
XR_921998.3:n.1593G>C