Canonical Allele Identifier: CA342285892

Gene: PRPF3

Linked Data

• MyVariant Identifiers: chr1:g.150318964G>C (hg19) ; chr1:g.150346488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346488G>C , CM000663.2:g.150346488G>C	GRCh38
NC_000001.10:g.150318964G>C , CM000663.1:g.150318964G>C	GRCh37
NC_000001.9:g.148585588G>C	NCBI36
NG_008245.1:g.30037G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1840G>C MANE Select	ENSP00000315379.6:p.Asp614His
ENST00000324862.6:c.1840G>C	ENSP00000315379.6:p.Asp614His
ENST00000467329.5:n.2167G>C
ENST00000476970.1:n.949G>C
NM_004698.2:c.1840G>C	NP_004689.1:p.Asp614His
XM_011510128.1:c.1840G>C	XP_011508430.1:p.Asp614His
XM_011510129.1:c.1435G>C	XP_011508431.1:p.Asp479His
XM_011510130.1:c.1408G>C	XP_011508432.1:p.Asp470His
XR_241103.1:n.1823G>C
XR_921997.1:n.1823G>C
XR_921998.1:n.1937G>C
NM_001350529.1:c.1435G>C	NP_001337458.1:p.Asp479His
NM_004698.3:c.1840G>C	NP_004689.1:p.Asp614His
NR_146766.1:n.2071G>C
NR_146767.1:n.2167G>C
NR_146768.1:n.2013G>C
NR_146769.1:n.2066G>C
XM_011510130.3:c.1408G>C	XP_011508432.1:p.Asp470His
XM_017002790.1:c.1408G>C	XP_016858279.1:p.Asp470His
XR_001737536.2:n.1873G>C
XR_001737537.2:n.1987G>C
XR_001737540.2:n.2744G>C
XR_001737541.2:n.1767G>C
XR_002958009.1:n.2497G>C
XR_002958010.1:n.3733G>C
XR_002958012.1:n.1929G>C
XR_241103.3:n.1815G>C
XR_921997.3:n.1815G>C
XR_921998.3:n.1929G>C
NM_004698.4:c.1840G>C MANE Select	NP_004689.1:p.Asp614His