Canonical Allele Identifier: CA2796088843

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722025A>T , CM000674.2:g.55722025A>T	GRCh38
NC_000012.11:g.56115809A>T , CM000674.1:g.56115809A>T	GRCh37
NC_000012.10:g.54402076A>T	NCBI36
NG_008606.1:g.6659A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+78A>T MANE Select	ENSP00000257895.6:n.569+78A>T
ENST00000257895.9:c.569+78A>T	ENSP00000257895.5:n.569+78A>T
ENST00000257899.3:c.591+71A>T
ENST00000547072.5:c.278+78A>T	ENSP00000449927.1:n.278+78A>T
ENST00000548082.1:c.569+78A>T	ENSP00000447128.1:n.569+78A>T
ENST00000548123.1:c.300+531A>T
ENST00000548486.1:n.657A>T
ENST00000550412.5:c.*319A>T	ENSP00000447650.1:n.*319A>T
ENST00000550608.1:n.786A>T
ENST00000551946.5:c.*450A>T	ENSP00000450201.1:n.*450A>T
ENST00000553160.1:n.406-170A>T
NM_001199771.1:c.569+78A>T	NP_001186700.1:n.569+78A>T
NM_002905.3:c.569+78A>T	NP_002896.2:n.569+78A>T
NR_037658.1:n.628+78A>T
NM_001199771.2:c.569+78A>T	NP_001186700.1:n.569+78A>T
NM_002905.5:c.569+78A>T MANE Select	NP_002896.2:n.569+78A>T
NM_001199771.3:c.569+78A>T	NP_001186700.1:n.569+78A>T