Canonical Allele Identifier: CA6616827

Gene: RDH5

Linked Data

• ClinVar Variation Id: 635161
• ClinVar RCV Id: RCV000786016 ; RCV002535735
• dbSNP Id: rs377029071
• ExAC: 12:56115544 G / A
• gnomAD v2: 12-56115544-G-A
• gnomAD v3: 12-55721760-G-A
• gnomAD v4: 12-55721760-G-A
• MyVariant Identifiers: chr12:g.56115544G>A (hg19) ; chr12:g.55721760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721760G>A , CM000674.2:g.55721760G>A	GRCh38
NC_000012.11:g.56115544G>A , CM000674.1:g.56115544G>A	GRCh37
NC_000012.10:g.54401811G>A	NCBI36
NG_008606.1:g.6394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.382G>A MANE Select	ENSP00000257895.6:p.Asp128Asn
ENST00000257895.9:c.382G>A	ENSP00000257895.5:p.Asp128Asn
ENST00000257899.3:c.397G>A
ENST00000547072.5:c.91G>A	ENSP00000449927.1:p.Asp31Asn
ENST00000547301.1:n.490G>A
ENST00000548082.1:c.382G>A	ENSP00000447128.1:p.Asp128Asn
ENST00000548123.1:c.300+266G>A
ENST00000548486.1:n.392G>A
ENST00000549424.1:c.*54G>A	ENSP00000447621.1:n.*54G>A
ENST00000550412.5:c.*54G>A	ENSP00000447650.1:n.*54G>A
ENST00000550608.1:n.521G>A
ENST00000551946.5:c.*185G>A	ENSP00000450201.1:n.*185G>A
ENST00000552930.5:c.91G>A	ENSP00000448014.1:p.Asp31Asn
ENST00000553160.1:n.406-435G>A
ENST00000553187.5:n.392G>A
NM_001199771.1:c.382G>A	NP_001186700.1:p.Asp128Asn
NM_002905.3:c.382G>A	NP_002896.2:p.Asp128Asn
NR_037658.1:n.441G>A
NM_001199771.2:c.382G>A	NP_001186700.1:p.Asp128Asn
NM_002905.5:c.382G>A MANE Select	NP_002896.2:p.Asp128Asn
NM_001199771.3:c.382G>A	NP_001186700.1:p.Asp128Asn