Canonical Allele Identifier: CA385201042

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115659G>C (hg19) ; chr12:g.55721875G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721875G>C , CM000674.2:g.55721875G>C	GRCh38
NC_000012.11:g.56115659G>C , CM000674.1:g.56115659G>C	GRCh37
NC_000012.10:g.54401926G>C	NCBI36
NG_008606.1:g.6509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.497G>C MANE Select	ENSP00000257895.6:p.Gly166Ala
ENST00000257895.9:c.497G>C	ENSP00000257895.5:p.Gly166Ala
ENST00000257899.3:c.512G>C
ENST00000547072.5:c.206G>C	ENSP00000449927.1:p.Gly69Ala
ENST00000548082.1:c.497G>C	ENSP00000447128.1:p.Gly166Ala
ENST00000548123.1:c.300+381G>C
ENST00000548486.1:n.507G>C
ENST00000550412.5:c.*169G>C	ENSP00000447650.1:n.*169G>C
ENST00000550608.1:n.636G>C
ENST00000551946.5:c.*300G>C	ENSP00000450201.1:n.*300G>C
ENST00000553160.1:n.406-320G>C
ENST00000553187.5:n.507G>C
NM_001199771.1:c.497G>C	NP_001186700.1:p.Gly166Ala
NM_002905.3:c.497G>C	NP_002896.2:p.Gly166Ala
NR_037658.1:n.556G>C
NM_001199771.2:c.497G>C	NP_001186700.1:p.Gly166Ala
NM_002905.5:c.497G>C MANE Select	NP_002896.2:p.Gly166Ala
NM_001199771.3:c.497G>C	NP_001186700.1:p.Gly166Ala