Canonical Allele Identifier: CA2619208715

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721641-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721641T>C , CM000674.2:g.55721641T>C	GRCh38
NC_000012.11:g.56115425T>C , CM000674.1:g.56115425T>C	GRCh37
NC_000012.10:g.54401692T>C	NCBI36
NG_008606.1:g.6275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-48T>C MANE Select	ENSP00000257895.6:n.311-48T>C
ENST00000257895.9:c.311-48T>C	ENSP00000257895.5:n.311-48T>C
ENST00000257899.3:c.326-48T>C
ENST00000547072.5:c.20-48T>C	ENSP00000449927.1:n.20-48T>C
ENST00000547301.1:n.371T>C
ENST00000548082.1:c.311-48T>C	ENSP00000447128.1:n.311-48T>C
ENST00000548123.1:c.300+147T>C
ENST00000548486.1:n.321-48T>C
ENST00000549424.1:c.118-48T>C	ENSP00000447621.1:n.118-48T>C
ENST00000550412.5:c.352-48T>C	ENSP00000447650.1:n.352-48T>C
ENST00000550608.1:n.450-48T>C
ENST00000551946.5:c.*114-48T>C	ENSP00000450201.1:n.*114-48T>C
ENST00000552930.5:c.20-48T>C	ENSP00000448014.1:n.20-48T>C
ENST00000553160.1:n.406-554T>C
ENST00000553187.5:n.321-48T>C
NM_001199771.1:c.311-48T>C	NP_001186700.1:n.311-48T>C
NM_002905.3:c.311-48T>C	NP_002896.2:n.311-48T>C
NR_037658.1:n.370-48T>C
NM_001199771.2:c.311-48T>C	NP_001186700.1:n.311-48T>C
NM_002905.5:c.311-48T>C MANE Select	NP_002896.2:n.311-48T>C
NM_001199771.3:c.311-48T>C	NP_001186700.1:n.311-48T>C