Canonical Allele Identifier: CA374554847
Gene: PRPF4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113288243G>C , CM000671.2:g.113288243G>C GRCh38
NC_000009.11:g.116050523G>C , CM000671.1:g.116050523G>C GRCh37
NC_000009.10:g.115090344G>C NCBI36
NG_034225.1:g.17610G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374198.5:c.1001G>C MANE Select ENSP00000363313.4:p.Gly334Ala
ENST00000374199.9:c.1004G>C ENSP00000363315.4:p.Gly335Ala
ENST00000374198.4:c.1004G>C ENSP00000363313.3:p.Gly335Ala
ENST00000374199.8:c.1001G>C ENSP00000363315.3:p.Gly334Ala
NM_001244926.1:c.1001G>C NP_001231855.1:p.Gly334Ala
NM_004697.4:c.1004G>C NP_004688.2:p.Gly335Ala
XM_005252300.2:c.275G>C XP_005252357.1:p.Gly92Ala
XM_011519181.1:c.1004G>C XP_011517483.1:p.Gly335Ala
NM_001322266.1:c.275G>C NP_001309195.1:p.Gly92Ala
NM_001322267.1:c.275G>C NP_001309196.1:p.Gly92Ala
NR_136265.1:n.1114G>C
NR_136266.1:n.1111G>C
NM_001244926.2:c.1001G>C MANE Select NP_001231855.1:p.Gly334Ala
NM_001322266.2:c.275G>C NP_001309195.1:p.Gly92Ala
NM_001322267.2:c.275G>C NP_001309196.1:p.Gly92Ala
NM_004697.5:c.1004G>C NP_004688.2:p.Gly335Ala
NR_136265.2:n.1090G>C
NR_136266.2:n.1087G>C