Canonical Allele Identifier: CA119196
Gene: RDH5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.55724028G>T
GRCh37 chr12:g.56117812G>T
Revel Score:
ENST00000547072 0.924
ENST00000257895 (MANE Select) 0.924
ENST00000548082 0.924
gnomAD v2:
12:56117812 G / T
gnomAD v3:
12:55724028 G / T
gnomAD v4:
chr12-55724028-G-T
Joint Max Group AF 0.00031206 (NFE)
Genomes Max Group AF 0.00024286 (NFE)
Exomes Max Group AF 0.00031047 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55724028G>T , CM000674.2:g.55724028G>T GRCh38
NC_000012.11:g.56117812G>T , CM000674.1:g.56117812G>T GRCh37
NC_000012.10:g.54404079G>T NCBI36
NG_008347.1:g.10099C>A
NG_008606.1:g.8662G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.712G>T MANE Select ENSP00000257895.6:p.Gly238Trp
ENST00000257895.9:c.712G>T ENSP00000257895.5:p.Gly238Trp
ENST00000257899.3:c.592-510G>T
ENST00000547072.5:c.421G>T ENSP00000449927.1:p.Gly141Trp
ENST00000548082.1:c.712G>T ENSP00000447128.1:p.Gly238Trp
ENST00000548123.1:c.443G>T
ENST00000550412.5:c.*2322G>T ENSP00000447650.1:n.*2322G>T
ENST00000551444.1:n.662G>T
NM_001199771.1:c.712G>T NP_001186700.1:p.Gly238Trp
NM_002905.3:c.712G>T NP_002896.2:p.Gly238Trp
NR_037658.1:n.771G>T
NM_001199771.2:c.712G>T NP_001186700.1:p.Gly238Trp
NM_002905.5:c.712G>T MANE Select NP_002896.2:p.Gly238Trp
NM_001199771.3:c.712G>T NP_001186700.1:p.Gly238Trp
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