Canonical Allele Identifier: CA385200893

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115608C>T (hg19) ; chr12:g.55721824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721824C>T , CM000674.2:g.55721824C>T	GRCh38
NC_000012.11:g.56115608C>T , CM000674.1:g.56115608C>T	GRCh37
NC_000012.10:g.54401875C>T	NCBI36
NG_008606.1:g.6458C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.446C>T MANE Select	ENSP00000257895.6:p.Pro149Leu
ENST00000257895.9:c.446C>T	ENSP00000257895.5:p.Pro149Leu
ENST00000257899.3:c.461C>T
ENST00000547072.5:c.155C>T	ENSP00000449927.1:p.Pro52Leu
ENST00000547301.1:n.554C>T
ENST00000548082.1:c.446C>T	ENSP00000447128.1:p.Pro149Leu
ENST00000548123.1:c.300+330C>T
ENST00000548486.1:n.456C>T
ENST00000550412.5:c.*118C>T	ENSP00000447650.1:n.*118C>T
ENST00000550608.1:n.585C>T
ENST00000551946.5:c.*249C>T	ENSP00000450201.1:n.*249C>T
ENST00000552930.5:c.155C>T	ENSP00000448014.1:p.Pro52Leu
ENST00000553160.1:n.406-371C>T
ENST00000553187.5:n.456C>T
NM_001199771.1:c.446C>T	NP_001186700.1:p.Pro149Leu
NM_002905.3:c.446C>T	NP_002896.2:p.Pro149Leu
NR_037658.1:n.505C>T
NM_001199771.2:c.446C>T	NP_001186700.1:p.Pro149Leu
NM_002905.5:c.446C>T MANE Select	NP_002896.2:p.Pro149Leu
NM_001199771.3:c.446C>T	NP_001186700.1:p.Pro149Leu