Canonical Allele Identifier: CA2038069512

Gene: RDH5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_002905.5:c.530T= MANE Select	NP_002896.2:p.Val177=
ENST00000257895.10:c.530T= MANE Select	ENSP00000257895.6:p.Val177=
NM_001199771.1:c.530T=	NP_001186700.1:p.Val177=
NM_001199771.2:c.530T=	NP_001186700.1:p.Val177=
NM_001199771.3:c.530T=	NP_001186700.1:p.Val177=
NM_002905.3:c.530T=	NP_002896.2:p.Val177=
NR_037658.1:n.589T=
ENST00000257895.9:c.530T=	ENSP00000257895.5:p.Val177=
ENST00000257899.3:c.545T=
ENST00000547072.5:c.239T=	ENSP00000449927.1:p.Val80=
ENST00000548082.1:c.530T=	ENSP00000447128.1:p.Val177=
ENST00000548123.1:c.300+414T=
ENST00000548486.1:n.540T=
ENST00000550412.5:c.*202T=	ENSP00000447650.1:n.*202T=
ENST00000550608.1:n.669T=
ENST00000551946.5:c.*333T=	ENSP00000450201.1:n.*333T=
ENST00000553160.1:n.406-287T=
ENST00000553187.5:n.540T=