Canonical Allele Identifier: CA43345940
Gene: RDH14 HGNC NCBI
NT5C1B-RDH14 HGNC NCBI
ClinVar RCV:
RCV004263745
ClinVar Variation:
2469373
dbSNP:
376806699
gnomAD v4:
chr2-18560487-A-T
Joint Max Group AF 8.2e-7 (NFE)
Exomes Max Group AF 8.7e-7 (NFE)
MyVariant.info:
GRCh38 chr2:g.18560487A>T
GRCh37 chr2:g.18741753A>T
Revel Score:
ENST00000381249 (MANE Select) 0.281
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.18560487A>T , CM000664.2:g.18560487A>T GRCh38
NC_000002.11:g.18741753A>T , CM000664.1:g.18741753A>T GRCh37
NC_000002.10:g.18605234A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381249.4:c.86T>A (RDH14) MANE Select ENSP00000370648.3:p.Val29Asp
ENST00000381249.3:c.86T>A (RDH14) ENSP00000370648.3:p.Val29Asp
ENST00000444297.2:c.1336-4679T>A (NT5C1B-RDH14) ENSP00000412639.2:n.1336-4679T>A
ENST00000468071.1:n.50+143T>A (RDH14)
ENST00000532967.5:c.1784+3358T>A (NT5C1B-RDH14) ENSP00000433415.1:n.1784+3358T>A
NM_001199103.1:c.1336-4679T>A (NT5C1B-RDH14) NP_001186032.1:n.1336-4679T>A
NM_001199104.1:c.1784+3358T>A (NT5C1B-RDH14) NP_001186033.1:n.1784+3358T>A
NM_020905.3:c.86T>A (RDH14) NP_065956.1:p.Val29Asp
NM_020905.4:c.86T>A (RDH14) MANE Select NP_065956.1:p.Val29Asp
NM_001199103.2:c.1336-4679T>A (NT5C1B-RDH14) NP_001186032.1:n.1336-4679T>A
NM_001199104.2:c.1784+3358T>A (NT5C1B-RDH14) NP_001186033.1:n.1784+3358T>A
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