Canonical Allele Identifier: CA5195190

Gene: PRPF4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113291598G>A , CM000671.2:g.113291598G>A	GRCh38
NC_000009.11:g.116053878G>A , CM000671.1:g.116053878G>A	GRCh37
NC_000009.10:g.115093699G>A	NCBI36
NG_034225.1:g.20965G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001244926.2:c.1504G>A MANE Select	NP_001231855.1:p.Asp502Asn
ENST00000374198.5:c.1504G>A MANE Select	ENSP00000363313.4:p.Asp502Asn
NM_001244926.1:c.1504G>A	NP_001231855.1:p.Asp502Asn
NM_001322266.1:c.778G>A	NP_001309195.1:p.Asp260Asn
NM_001322266.2:c.778G>A	NP_001309195.1:p.Asp260Asn
NM_001322267.1:c.778G>A	NP_001309196.1:p.Asp260Asn
NM_001322267.2:c.778G>A	NP_001309196.1:p.Asp260Asn
NM_004697.4:c.1507G>A	NP_004688.2:p.Asp503Asn
NM_004697.5:c.1507G>A	NP_004688.2:p.Asp503Asn
NR_136265.1:n.1568G>A
NR_136265.2:n.1544G>A
NR_136266.1:n.1565G>A
NR_136266.2:n.1541G>A
ENST00000374198.4:c.1507G>A	ENSP00000363313.3:p.Asp503Asn
ENST00000374199.8:c.1504G>A	ENSP00000363315.3:p.Asp502Asn
ENST00000374199.9:c.1507G>A	ENSP00000363315.4:p.Asp503Asn
XM_005252300.2:c.778G>A	XP_005252357.1:p.Asp260Asn