Canonical Allele Identifier: CA2038069408

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721691C= , CM000674.2:g.55721691C=	GRCh38
NC_000012.11:g.56115475C= , CM000674.1:g.56115475C=	GRCh37
NC_000012.10:g.54401742C=	NCBI36
NG_008606.1:g.6325C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.313C= MANE Select	ENSP00000257895.6:p.Leu105=
ENST00000257895.9:c.313C=	ENSP00000257895.5:p.Leu105=
ENST00000257899.3:c.328C=
ENST00000547072.5:c.22C=	ENSP00000449927.1:p.Leu8=
ENST00000547301.1:n.421C=
ENST00000548082.1:c.313C=	ENSP00000447128.1:p.Leu105=
ENST00000548123.1:c.300+197C=
ENST00000548486.1:n.323C=
ENST00000549424.1:c.120C=	ENSP00000447621.1:p.Gly40=
ENST00000550412.5:c.354C=	ENSP00000447650.1:p.Gly118=
ENST00000550608.1:n.452C=
ENST00000551946.5:c.*116C=	ENSP00000450201.1:n.*116C=
ENST00000552930.5:c.22C=	ENSP00000448014.1:p.Leu8=
ENST00000553160.1:n.406-504C=
ENST00000553187.5:n.323C=
NM_001199771.1:c.313C=	NP_001186700.1:p.Leu105=
NM_002905.3:c.313C=	NP_002896.2:p.Leu105=
NR_037658.1:n.372C=
NM_001199771.2:c.313C=	NP_001186700.1:p.Leu105=
NM_002905.5:c.313C= MANE Select	NP_002896.2:p.Leu105=
NM_001199771.3:c.313C=	NP_001186700.1:p.Leu105=