Canonical Allele Identifier: CA309325385
Gene: PRPF31 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.54123928C>T
gnomAD v3:
19:54123928 C / T
gnomAD v4:
chr19-54123928-C-T
Joint Max Group AF 0.00025394 (AFR)
Genomes Max Group AF 0.00033856 (AFR)
Exomes Max Group AF 0.00007861 (NFE)
ClinVar RCV:
RCV000335195
RCV002057528
ClinVar Variation:
330099
dbSNP:
369722854
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54123928C>T , CM000681.2:g.54123928C>T GRCh38
NC_000019.8:g.59319119C>T NCBI36
NG_009759.1:g.13518C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321030.9:c.697+10C>T MANE Select ENSP00000324122.4:n.697+10C>T
ENST00000321030.8:c.697+10C>T ENSP00000324122.4:n.697+10C>T
ENST00000391755.1:c.697+10C>T ENSP00000375635.1:n.697+10C>T
ENST00000419967.5:c.697+10C>T ENSP00000405166.2:n.697+10C>T
ENST00000445124.5:c.697+10C>T ENSP00000408980.1:n.697+10C>T
ENST00000445811.5:c.697+10C>T ENSP00000395894.1:n.697+10C>T
ENST00000447810.5:c.697+10C>T ENSP00000395089.1:n.697+10C>T
ENST00000466404.5:n.567+10C>T
ENST00000498612.1:n.480+10C>T
NM_015629.3:c.697+10C>T NP_056444.3:n.697+10C>T
XM_006723137.2:c.697+10C>T XP_006723200.1:n.697+10C>T
XR_935789.1:n.746+10C>T
XM_006723137.4:c.697+10C>T XP_006723200.1:n.697+10C>T
XR_002958293.1:n.827+10C>T
XR_935789.3:n.758+10C>T
NM_015629.4:c.697+10C>T MANE Select NP_056444.3:n.697+10C>T
Search 100 bp 5'
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