Canonical Allele Identifier: CA237593789

Gene: RDH5

Linked Data

• dbSNP Id: rs1042387996
• MyVariant Identifiers: chr12:g.56115714C>A (hg19) ; chr12:g.55721930C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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