Canonical Allele Identifier: CA385201145

Gene: RDH5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_002905.5:c.530T>C MANE Select	NP_002896.2:p.Val177Ala
ENST00000257895.10:c.530T>C MANE Select	ENSP00000257895.6:p.Val177Ala
NM_001199771.1:c.530T>C	NP_001186700.1:p.Val177Ala
NM_001199771.2:c.530T>C	NP_001186700.1:p.Val177Ala
NM_001199771.3:c.530T>C	NP_001186700.1:p.Val177Ala
NM_002905.3:c.530T>C	NP_002896.2:p.Val177Ala
NR_037658.1:n.589T>C
ENST00000257895.9:c.530T>C	ENSP00000257895.5:p.Val177Ala
ENST00000257899.3:c.545T>C
ENST00000547072.5:c.239T>C	ENSP00000449927.1:p.Val80Ala
ENST00000548082.1:c.530T>C	ENSP00000447128.1:p.Val177Ala
ENST00000548123.1:c.300+414T>C
ENST00000548486.1:n.540T>C
ENST00000550412.5:c.*202T>C	ENSP00000447650.1:n.*202T>C
ENST00000550608.1:n.669T>C
ENST00000551946.5:c.*333T>C	ENSP00000450201.1:n.*333T>C
ENST00000553160.1:n.406-287T>C
ENST00000553187.5:n.540T>C