Canonical Allele Identifier: CA385200561

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115488T>C (hg19) ; chr12:g.55721704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721704T>C , CM000674.2:g.55721704T>C	GRCh38
NC_000012.11:g.56115488T>C , CM000674.1:g.56115488T>C	GRCh37
NC_000012.10:g.54401755T>C	NCBI36
NG_008606.1:g.6338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.326T>C MANE Select	ENSP00000257895.6:p.Val109Ala
ENST00000257895.9:c.326T>C	ENSP00000257895.5:p.Val109Ala
ENST00000257899.3:c.341T>C
ENST00000547072.5:c.35T>C	ENSP00000449927.1:p.Val12Ala
ENST00000547301.1:n.434T>C
ENST00000548082.1:c.326T>C	ENSP00000447128.1:p.Val109Ala
ENST00000548123.1:c.300+210T>C
ENST00000548486.1:n.336T>C
ENST00000549424.1:c.133T>C	ENSP00000447621.1:p.Ter45Arg
ENST00000550412.5:c.367T>C	ENSP00000447650.1:p.Ter123Arg
ENST00000550608.1:n.465T>C
ENST00000551946.5:c.*129T>C	ENSP00000450201.1:n.*129T>C
ENST00000552930.5:c.35T>C	ENSP00000448014.1:p.Val12Ala
ENST00000553160.1:n.406-491T>C
ENST00000553187.5:n.336T>C
NM_001199771.1:c.326T>C	NP_001186700.1:p.Val109Ala
NM_002905.3:c.326T>C	NP_002896.2:p.Val109Ala
NR_037658.1:n.385T>C
NM_001199771.2:c.326T>C	NP_001186700.1:p.Val109Ala
NM_002905.5:c.326T>C MANE Select	NP_002896.2:p.Val109Ala
NM_001199771.3:c.326T>C	NP_001186700.1:p.Val109Ala