Canonical Allele Identifier: CA2575183616

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722041T>A , CM000674.2:g.55722041T>A	GRCh38
NC_000012.11:g.56115825T>A , CM000674.1:g.56115825T>A	GRCh37
NC_000012.10:g.54402092T>A	NCBI36
NG_008606.1:g.6675T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+94T>A MANE Select	ENSP00000257895.6:n.569+94T>A
ENST00000257895.9:c.569+94T>A	ENSP00000257895.5:n.569+94T>A
ENST00000257899.3:c.591+87T>A
ENST00000547072.5:c.278+94T>A	ENSP00000449927.1:n.278+94T>A
ENST00000548082.1:c.569+94T>A	ENSP00000447128.1:n.569+94T>A
ENST00000548123.1:c.300+547T>A
ENST00000548486.1:n.673T>A
ENST00000550412.5:c.*335T>A	ENSP00000447650.1:n.*335T>A
ENST00000550608.1:n.802T>A
ENST00000551946.5:c.*466T>A	ENSP00000450201.1:n.*466T>A
ENST00000553160.1:n.406-154T>A
NM_001199771.1:c.569+94T>A	NP_001186700.1:n.569+94T>A
NM_002905.3:c.569+94T>A	NP_002896.2:n.569+94T>A
NR_037658.1:n.628+94T>A
NM_001199771.2:c.569+94T>A	NP_001186700.1:n.569+94T>A
NM_002905.5:c.569+94T>A MANE Select	NP_002896.2:n.569+94T>A
NM_001199771.3:c.569+94T>A	NP_001186700.1:n.569+94T>A