Canonical Allele Identifier: CA385201227

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115719C>T (hg19) ; chr12:g.55721935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721935C>T , CM000674.2:g.55721935C>T	GRCh38
NC_000012.11:g.56115719C>T , CM000674.1:g.56115719C>T	GRCh37
NC_000012.10:g.54401986C>T	NCBI36
NG_008606.1:g.6569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.557C>T MANE Select	ENSP00000257895.6:p.Ser186Phe
ENST00000257895.9:c.557C>T	ENSP00000257895.5:p.Ser186Phe
ENST00000257899.3:c.572C>T
ENST00000547072.5:c.266C>T	ENSP00000449927.1:p.Ser89Phe
ENST00000548082.1:c.557C>T	ENSP00000447128.1:p.Ser186Phe
ENST00000548123.1:c.300+441C>T
ENST00000548486.1:n.567C>T
ENST00000550412.5:c.*229C>T	ENSP00000447650.1:n.*229C>T
ENST00000550608.1:n.696C>T
ENST00000551946.5:c.*360C>T	ENSP00000450201.1:n.*360C>T
ENST00000553160.1:n.406-260C>T
ENST00000553187.5:n.567C>T
NM_001199771.1:c.557C>T	NP_001186700.1:p.Ser186Phe
NM_002905.3:c.557C>T	NP_002896.2:p.Ser186Phe
NR_037658.1:n.616C>T
NM_001199771.2:c.557C>T	NP_001186700.1:p.Ser186Phe
NM_002905.5:c.557C>T MANE Select	NP_002896.2:p.Ser186Phe
NM_001199771.3:c.557C>T	NP_001186700.1:p.Ser186Phe