Canonical Allele Identifier: CA2038069524

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721930C= , CM000674.2:g.55721930C=	GRCh38
NC_000012.11:g.56115714C= , CM000674.1:g.56115714C=	GRCh37
NC_000012.10:g.54401981C=	NCBI36
NG_008606.1:g.6564C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.552C= MANE Select	ENSP00000257895.6:p.Ala184=
ENST00000257895.9:c.552C=	ENSP00000257895.5:p.Ala184=
ENST00000257899.3:c.567C=
ENST00000547072.5:c.261C=	ENSP00000449927.1:p.Ala87=
ENST00000548082.1:c.552C=	ENSP00000447128.1:p.Ala184=
ENST00000548123.1:c.300+436C=
ENST00000548486.1:n.562C=
ENST00000550412.5:c.*224C=	ENSP00000447650.1:n.*224C=
ENST00000550608.1:n.691C=
ENST00000551946.5:c.*355C=	ENSP00000450201.1:n.*355C=
ENST00000553160.1:n.406-265C=
ENST00000553187.5:n.562C=
NM_001199771.1:c.552C=	NP_001186700.1:p.Ala184=
NM_002905.3:c.552C=	NP_002896.2:p.Ala184=
NR_037658.1:n.611C=
NM_001199771.2:c.552C=	NP_001186700.1:p.Ala184=
NM_002905.5:c.552C= MANE Select	NP_002896.2:p.Ala184=
NM_001199771.3:c.552C=	NP_001186700.1:p.Ala184=