Canonical Allele Identifier: CA237593665

Gene: RDH5

Linked Data

• dbSNP Id: rs980951727
• MyVariant Identifiers: chr12:g.56115560T>C (hg19) ; chr12:g.55721776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721776T>C , CM000674.2:g.55721776T>C	GRCh38
NC_000012.11:g.56115560T>C , CM000674.1:g.56115560T>C	GRCh37
NC_000012.10:g.54401827T>C	NCBI36
NG_008606.1:g.6410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.398T>C MANE Select	ENSP00000257895.6:p.Leu133Pro
ENST00000257895.9:c.398T>C	ENSP00000257895.5:p.Leu133Pro
ENST00000257899.3:c.413T>C
ENST00000547072.5:c.107T>C	ENSP00000449927.1:p.Leu36Pro
ENST00000547301.1:n.506T>C
ENST00000548082.1:c.398T>C	ENSP00000447128.1:p.Leu133Pro
ENST00000548123.1:c.300+282T>C
ENST00000548486.1:n.408T>C
ENST00000549424.1:c.*70T>C	ENSP00000447621.1:n.*70T>C
ENST00000550412.5:c.*70T>C	ENSP00000447650.1:n.*70T>C
ENST00000550608.1:n.537T>C
ENST00000551946.5:c.*201T>C	ENSP00000450201.1:n.*201T>C
ENST00000552930.5:c.107T>C	ENSP00000448014.1:p.Leu36Pro
ENST00000553160.1:n.406-419T>C
ENST00000553187.5:n.408T>C
NM_001199771.1:c.398T>C	NP_001186700.1:p.Leu133Pro
NM_002905.3:c.398T>C	NP_002896.2:p.Leu133Pro
NR_037658.1:n.457T>C
NM_001199771.2:c.398T>C	NP_001186700.1:p.Leu133Pro
NM_002905.5:c.398T>C MANE Select	NP_002896.2:p.Leu133Pro
NM_001199771.3:c.398T>C	NP_001186700.1:p.Leu133Pro