Canonical Allele Identifier: CA119206
Gene: RDH5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.55724429T>C
GRCh37 chr12:g.56118213T>C
Revel Score:
ENST00000547072 0.950
ENST00000257895 (MANE Select) 0.950
ENST00000548082 0.950
ClinVar RCV:
RCV000008472
ClinVar Variation:
8008
dbSNP:
62638194
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55724429T>C , CM000674.2:g.55724429T>C GRCh38
NC_000012.11:g.56118213T>C , CM000674.1:g.56118213T>C GRCh37
NC_000012.10:g.54404480T>C NCBI36
NG_008347.1:g.9698A>G
NG_008606.1:g.9063T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.841T>C MANE Select ENSP00000257895.6:p.Tyr281His
ENST00000257895.9:c.841T>C ENSP00000257895.5:p.Tyr281His
ENST00000257899.3:c.592-109T>C
ENST00000547072.5:c.550T>C ENSP00000449927.1:p.Tyr184His
ENST00000548082.1:c.841T>C ENSP00000447128.1:p.Tyr281His
ENST00000548123.1:c.572T>C
ENST00000550412.5:c.*2723T>C ENSP00000447650.1:n.*2723T>C
ENST00000551444.1:n.791T>C
NM_001199771.1:c.841T>C NP_001186700.1:p.Tyr281His
NM_002905.3:c.841T>C NP_002896.2:p.Tyr281His
NR_037658.1:n.900T>C
NM_001199771.2:c.841T>C NP_001186700.1:p.Tyr281His
NM_002905.5:c.841T>C MANE Select NP_002896.2:p.Tyr281His
NM_001199771.3:c.841T>C NP_001186700.1:p.Tyr281His
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