Canonical Allele Identifier: CA480156071

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115693C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721909C>A , CM000674.2:g.55721909C>A	GRCh38
NC_000012.11:g.56115693C>A , CM000674.1:g.56115693C>A	GRCh37
NC_000012.10:g.54401960C>A	NCBI36
NG_008606.1:g.6543C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.531C>A MANE Select	ENSP00000257895.6:p.Val177=
ENST00000257895.9:c.531C>A	ENSP00000257895.5:p.Val177=
ENST00000257899.3:c.546C>A
ENST00000547072.5:c.240C>A	ENSP00000449927.1:p.Val80=
ENST00000548082.1:c.531C>A	ENSP00000447128.1:p.Val177=
ENST00000548123.1:c.300+415C>A
ENST00000548486.1:n.541C>A
ENST00000550412.5:c.*203C>A	ENSP00000447650.1:n.*203C>A
ENST00000550608.1:n.670C>A
ENST00000551946.5:c.*334C>A	ENSP00000450201.1:n.*334C>A
ENST00000553160.1:n.406-286C>A
ENST00000553187.5:n.541C>A
NM_001199771.1:c.531C>A	NP_001186700.1:p.Val177=
NM_002905.3:c.531C>A	NP_002896.2:p.Val177=
NR_037658.1:n.590C>A
NM_001199771.2:c.531C>A	NP_001186700.1:p.Val177=
NM_002905.5:c.531C>A MANE Select	NP_002896.2:p.Val177=
NM_001199771.3:c.531C>A	NP_001186700.1:p.Val177=