Canonical Allele Identifier: CA43346017
Gene: RDH14 HGNC NCBI
NT5C1B-RDH14 HGNC NCBI
ClinVar RCV:
RCV004443704
ClinVar Variation:
3152785
dbSNP:
994916454
gnomAD v2:
2:18741829 C / G
gnomAD v3:
2:18560563 C / G
gnomAD v4:
chr2-18560563-C-G
Joint Max Group AF 0.00034052 (AFR)
Genomes Max Group AF 0.00028005 (AFR)
Exomes Max Group AF 0.00031408 (AFR)
MyVariant.info:
GRCh38 chr2:g.18560563C>G
GRCh37 chr2:g.18741829C>G
Revel Score:
ENST00000381249 (MANE Select) 0.183
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.18560563C>G , CM000664.2:g.18560563C>G GRCh38
NC_000002.11:g.18741829C>G , CM000664.1:g.18741829C>G GRCh37
NC_000002.10:g.18605310C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381249.4:c.10G>C (RDH14) MANE Select ENSP00000370648.3:p.Ala4Pro
ENST00000381249.3:c.10G>C (RDH14) ENSP00000370648.3:p.Ala4Pro
ENST00000444297.2:c.1336-4755G>C (NT5C1B-RDH14) ENSP00000412639.2:n.1336-4755G>C
ENST00000468071.1:n.50+67G>C (RDH14)
ENST00000532967.5:c.1784+3282G>C (NT5C1B-RDH14) ENSP00000433415.1:n.1784+3282G>C
NM_001199103.1:c.1336-4755G>C (NT5C1B-RDH14) NP_001186032.1:n.1336-4755G>C
NM_001199104.1:c.1784+3282G>C (NT5C1B-RDH14) NP_001186033.1:n.1784+3282G>C
NM_020905.3:c.10G>C (RDH14) NP_065956.1:p.Ala4Pro
XR_001739304.2:n.19C>G
XR_001739305.2:n.19C>G
NM_020905.4:c.10G>C (RDH14) MANE Select NP_065956.1:p.Ala4Pro
NM_001199103.2:c.1336-4755G>C (NT5C1B-RDH14) NP_001186032.1:n.1336-4755G>C
NM_001199104.2:c.1784+3282G>C (NT5C1B-RDH14) NP_001186033.1:n.1784+3282G>C
Search 100 bp 5'
Search 100 bp 3'