Canonical Allele Identifier: CA2038069412

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721703G= , CM000674.2:g.55721703G=	GRCh38
NC_000012.11:g.56115487G= , CM000674.1:g.56115487G=	GRCh37
NC_000012.10:g.54401754G=	NCBI36
NG_008606.1:g.6337G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.325G= MANE Select	ENSP00000257895.6:p.Val109=
ENST00000257895.9:c.325G=	ENSP00000257895.5:p.Val109=
ENST00000257899.3:c.340G=
ENST00000547072.5:c.34G=	ENSP00000449927.1:p.Val12=
ENST00000547301.1:n.433G=
ENST00000548082.1:c.325G=	ENSP00000447128.1:p.Val109=
ENST00000548123.1:c.300+209G=
ENST00000548486.1:n.335G=
ENST00000549424.1:c.132G=	ENSP00000447621.1:p.Trp44=
ENST00000550412.5:c.366G=	ENSP00000447650.1:p.Trp122=
ENST00000550608.1:n.464G=
ENST00000551946.5:c.*128G=	ENSP00000450201.1:n.*128G=
ENST00000552930.5:c.34G=	ENSP00000448014.1:p.Val12=
ENST00000553160.1:n.406-492G=
ENST00000553187.5:n.335G=
NM_001199771.1:c.325G=	NP_001186700.1:p.Val109=
NM_002905.3:c.325G=	NP_002896.2:p.Val109=
NR_037658.1:n.384G=
NM_001199771.2:c.325G=	NP_001186700.1:p.Val109=
NM_002905.5:c.325G= MANE Select	NP_002896.2:p.Val109=
NM_001199771.3:c.325G=	NP_001186700.1:p.Val109=