Canonical Allele Identifier: CA6638564
Gene: RDH16 HGNC NCBI
COSMIC:
COSM1717569 (not active)
MyVariant.info:
GRCh38 chr12:g.56957392A>G
GRCh37 chr12:g.57351176A>G
Revel Score:
ENST00000398138 (MANE Select) 0.584
gnomAD v2:
12:57351176 A / G
gnomAD v3:
12:56957392 A / G
gnomAD v4:
chr12-56957392-A-G
Joint Max Group AF 0.00005298 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00005422 (NFE)
ClinVar RCV:
RCV004350305
ClinVar Variation:
2603262
dbSNP:
767973636
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56957392A>G , CM000674.2:g.56957392A>G GRCh38
NC_000012.11:g.57351176A>G , CM000674.1:g.57351176A>G GRCh37
NC_000012.10:g.55637443A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398138.5:c.71T>C MANE Select ENSP00000381206.3:p.Leu24Pro
ENST00000360752.4:n.1983T>C
ENST00000398138.4:c.71T>C ENSP00000381206.3:p.Leu24Pro
NM_003708.3:c.71T>C NP_003699.3:p.Leu24Pro
XM_005269205.1:c.-106T>C XP_005269262.1:n.-106T>C
XM_011538923.1:c.71T>C XP_011537225.1:p.Leu24Pro
NM_001320108.1:c.-106T>C NP_001307037.1:n.-106T>C
NM_003708.4:c.71T>C NP_003699.3:p.Leu24Pro
NM_001320108.2:c.-106T>C NP_001307037.1:n.-106T>C
NM_003708.5:c.71T>C MANE Select NP_003699.3:p.Leu24Pro
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