Canonical Allele Identifier: CA119204
Gene: RDH5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8007
ClinVar RCV Id: RCV000008471
dbSNP Id: rs104894373

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55721908T>G , CM000674.2:g.55721908T>G GRCh38
NC_000012.11:g.56115692T>G , CM000674.1:g.56115692T>G GRCh37
NC_000012.10:g.54401959T>G NCBI36
NG_008606.1:g.6542T>G

Transcript Alleles

HGVS Amino-acid change
NM_001199771.1:c.530T>G VV NP_001186700.1:p.Val177Gly
NM_002905.3:c.530T>G VV NP_002896.2:p.Val177Gly
NR_037658.1:n.589T>G
ENST00000257895.9:c.530T>G ENSP00000257895.5:p.Val177Gly
ENST00000257899.3:n.545T>G
ENST00000547072.5:c.239T>G ENSP00000449927.1:p.Val80Gly
ENST00000548082.1:c.530T>G ENSP00000447128.1:p.Val177Gly
ENST00000548123.1:n.300+414T>G
ENST00000548486.1:n.540T>G
ENST00000550412.5:c.*202T>G ENSP00000447650.1:p.=
ENST00000550608.1:n.669T>G
ENST00000551946.5:c.*333T>G ENSP00000450201.1:p.=
ENST00000553160.1:n.406-287T>G
ENST00000553187.5:n.540T>G