Canonical Allele Identifier: CA5194750

Gene: PRPF4

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113275751C>T , CM000671.2:g.113275751C>T	GRCh38
NC_000009.11:g.116038031C>T , CM000671.1:g.116038031C>T	GRCh37
NC_000009.10:g.115077852C>T	NCBI36
NG_034225.1:g.5118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.8C>T MANE Select	ENSP00000363313.4:p.Ser3Phe
ENST00000374199.9:c.8C>T	ENSP00000363315.4:p.Ser3Phe
ENST00000374198.4:c.8C>T	ENSP00000363313.3:p.Ser3Phe
ENST00000374199.8:c.8C>T	ENSP00000363315.3:p.Ser3Phe
NM_001244926.1:c.8C>T	NP_001231855.1:p.Ser3Phe
NM_004697.4:c.8C>T	NP_004688.2:p.Ser3Phe
XM_011519181.1:c.8C>T	XP_011517483.1:p.Ser3Phe
NM_001322266.1:c.-758C>T	NP_001309195.1:n.-758C>T
NM_001322267.1:c.-761C>T	NP_001309196.1:n.-761C>T
NR_136265.1:n.118C>T
NR_136266.1:n.118C>T
NM_001244926.2:c.8C>T MANE Select	NP_001231855.1:p.Ser3Phe
NM_001322266.2:c.-758C>T	NP_001309195.1:n.-758C>T
NM_001322267.2:c.-761C>T	NP_001309196.1:n.-761C>T
NM_004697.5:c.8C>T	NP_004688.2:p.Ser3Phe
NR_136265.2:n.94C>T
NR_136266.2:n.94C>T