Canonical Allele Identifier: CA10642028

Gene: RDH5

Linked Data

• ClinVar Variation Id: 309809
• ClinVar RCV Id: RCV000281345
• dbSNP Id: rs886049673
• gnomAD v3: 12-55720427-G-A
• gnomAD v4: 12-55720427-G-A
• MyVariant Identifiers: chr12:g.56114211G>A (hg19) ; chr12:g.55720427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55720427G>A , CM000674.2:g.55720427G>A	GRCh38
NC_000012.11:g.56114211G>A , CM000674.1:g.56114211G>A	GRCh37
NC_000012.10:g.54400478G>A	NCBI36
NG_008606.1:g.5061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.-123G>A MANE Select	ENSP00000257895.6:n.-123G>A
ENST00000257895.9:c.-123G>A	ENSP00000257895.5:n.-123G>A
ENST00000257899.3:c.325+1204G>A
ENST00000547072.5:c.-267G>A	ENSP00000449927.1:n.-267G>A
ENST00000548082.1:c.-128G>A	ENSP00000447128.1:n.-128G>A
ENST00000548486.1:n.35G>A
ENST00000549424.1:c.117+1204G>A	ENSP00000447621.1:n.117+1204G>A
ENST00000550412.5:c.351+1204G>A	ENSP00000447650.1:n.351+1204G>A
ENST00000550608.1:n.17G>A
ENST00000551946.5:c.*113+1204G>A	ENSP00000450201.1:n.*113+1204G>A
ENST00000552930.5:c.-326G>A	ENSP00000448014.1:n.-326G>A
ENST00000553160.1:n.61G>A
ENST00000553187.5:n.35G>A
NM_001199771.1:c.-128G>A	NP_001186700.1:n.-128G>A
NM_002905.3:c.-123G>A	NP_002896.2:n.-123G>A
NR_037658.1:n.369+1204G>A
NM_001199771.2:c.-128G>A	NP_001186700.1:n.-128G>A
NM_002905.5:c.-123G>A MANE Select	NP_002896.2:n.-123G>A
NM_001199771.3:c.-128G>A	NP_001186700.1:n.-128G>A