Canonical Allele Identifier: CA480156093

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115696C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721912C>T , CM000674.2:g.55721912C>T	GRCh38
NC_000012.11:g.56115696C>T , CM000674.1:g.56115696C>T	GRCh37
NC_000012.10:g.54401963C>T	NCBI36
NG_008606.1:g.6546C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.534C>T MANE Select	ENSP00000257895.6:p.Ser178=
ENST00000257895.9:c.534C>T	ENSP00000257895.5:p.Ser178=
ENST00000257899.3:c.549C>T
ENST00000547072.5:c.243C>T	ENSP00000449927.1:p.Ser81=
ENST00000548082.1:c.534C>T	ENSP00000447128.1:p.Ser178=
ENST00000548123.1:c.300+418C>T
ENST00000548486.1:n.544C>T
ENST00000550412.5:c.*206C>T	ENSP00000447650.1:n.*206C>T
ENST00000550608.1:n.673C>T
ENST00000551946.5:c.*337C>T	ENSP00000450201.1:n.*337C>T
ENST00000553160.1:n.406-283C>T
ENST00000553187.5:n.544C>T
NM_001199771.1:c.534C>T	NP_001186700.1:p.Ser178=
NM_002905.3:c.534C>T	NP_002896.2:p.Ser178=
NR_037658.1:n.593C>T
NM_001199771.2:c.534C>T	NP_001186700.1:p.Ser178=
NM_002905.5:c.534C>T MANE Select	NP_002896.2:p.Ser178=
NM_001199771.3:c.534C>T	NP_001186700.1:p.Ser178=