Canonical Allele Identifier: CA28208057
Gene: RNPC3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.103536183C>T
GRCh37 chr1:g.104078805C>T
gnomAD v2:
1:104078805 C / T
gnomAD v3:
1:103536183 C / T
gnomAD v4:
chr1-103536183-C-T
Joint Max Group AF 0.00004926 (NFE)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.00004968 (NFE)
ClinVar Allele:
1052917
ClinVar RCV:
RCV001594475
RCV001775170
ClinVar Variation:
1064669
dbSNP:
939646611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103536183C>T , CM000663.2:g.103536183C>T GRCh38
NC_000001.10:g.104078805C>T , CM000663.1:g.104078805C>T GRCh37

Transcript Alleles

HGVS Amino-acid Change
ENST00000423855.7:c.613C>T MANE Select ENSP00000391432.1:p.Arg205Ter
ENST00000423855.6:c.613C>T ENSP00000391432.1:p.Arg205Ter
ENST00000524631.5:c.613C>T ENSP00000437278.1:p.Arg205Ter
ENST00000527062.5:c.136C>T ENSP00000436315.1:p.Arg46Ter
ENST00000533099.5:c.613C>T ENSP00000432886.1:p.Arg205Ter
NM_017619.3:c.613C>T NP_060089.1:p.Arg205Ter
NM_017619.4:c.613C>T MANE Select NP_060089.1:p.Arg205Ter
Search 100 bp 5'
Search 100 bp 3'