Canonical Allele Identifier: CA385200703

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115541G>T (hg19) ; chr12:g.55721757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721757G>T , CM000674.2:g.55721757G>T	GRCh38
NC_000012.11:g.56115541G>T , CM000674.1:g.56115541G>T	GRCh37
NC_000012.10:g.54401808G>T	NCBI36
NG_008606.1:g.6391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.379G>T MANE Select	ENSP00000257895.6:p.Asp127Tyr
ENST00000257895.9:c.379G>T	ENSP00000257895.5:p.Asp127Tyr
ENST00000257899.3:c.394G>T
ENST00000547072.5:c.88G>T	ENSP00000449927.1:p.Asp30Tyr
ENST00000547301.1:n.487G>T
ENST00000548082.1:c.379G>T	ENSP00000447128.1:p.Asp127Tyr
ENST00000548123.1:c.300+263G>T
ENST00000548486.1:n.389G>T
ENST00000549424.1:c.*51G>T	ENSP00000447621.1:n.*51G>T
ENST00000550412.5:c.*51G>T	ENSP00000447650.1:n.*51G>T
ENST00000550608.1:n.518G>T
ENST00000551946.5:c.*182G>T	ENSP00000450201.1:n.*182G>T
ENST00000552930.5:c.88G>T	ENSP00000448014.1:p.Asp30Tyr
ENST00000553160.1:n.406-438G>T
ENST00000553187.5:n.389G>T
NM_001199771.1:c.379G>T	NP_001186700.1:p.Asp127Tyr
NM_002905.3:c.379G>T	NP_002896.2:p.Asp127Tyr
NR_037658.1:n.438G>T
NM_001199771.2:c.379G>T	NP_001186700.1:p.Asp127Tyr
NM_002905.5:c.379G>T MANE Select	NP_002896.2:p.Asp127Tyr
NM_001199771.3:c.379G>T	NP_001186700.1:p.Asp127Tyr