Canonical Allele Identifier: CA2038069325

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721512C= , CM000674.2:g.55721512C=	GRCh38
NC_000012.11:g.56115296C= , CM000674.1:g.56115296C=	GRCh37
NC_000012.10:g.54401563C=	NCBI36
NG_008606.1:g.6146C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+18C= MANE Select	ENSP00000257895.6:n.310+18C=
ENST00000257895.9:c.310+18C=	ENSP00000257895.5:n.310+18C=
ENST00000257899.3:c.326-177C=
ENST00000547072.5:c.19+18C=	ENSP00000449927.1:n.19+18C=
ENST00000547301.1:n.242C=
ENST00000548082.1:c.310+18C=	ENSP00000447128.1:n.310+18C=
ENST00000548123.1:c.300+18C=
ENST00000548486.1:n.320+18C=
ENST00000549424.1:c.118-177C=	ENSP00000447621.1:n.118-177C=
ENST00000550412.5:c.352-177C=	ENSP00000447650.1:n.352-177C=
ENST00000550608.1:n.449+18C=
ENST00000551946.5:c.*114-177C=	ENSP00000450201.1:n.*114-177C=
ENST00000552930.5:c.19+18C=	ENSP00000448014.1:n.19+18C=
ENST00000553160.1:n.406-683C=
ENST00000553187.5:n.320+18C=
NM_001199771.1:c.310+18C=	NP_001186700.1:n.310+18C=
NM_002905.3:c.310+18C=	NP_002896.2:n.310+18C=
NR_037658.1:n.370-177C=
NM_001199771.2:c.310+18C=	NP_001186700.1:n.310+18C=
NM_002905.5:c.310+18C= MANE Select	NP_002896.2:n.310+18C=
NM_001199771.3:c.310+18C=	NP_001186700.1:n.310+18C=