Canonical Allele Identifier: CA385200621

Gene: RDH5

Linked Data

• dbSNP Id: rs1489469476
• gnomAD v2: 12-56115506-C-T
• MyVariant Identifiers: chr12:g.56115506C>T (hg19) ; chr12:g.55721722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721722C>T , CM000674.2:g.55721722C>T	GRCh38
NC_000012.11:g.56115506C>T , CM000674.1:g.56115506C>T	GRCh37
NC_000012.10:g.54401773C>T	NCBI36
NG_008606.1:g.6356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.344C>T MANE Select	ENSP00000257895.6:p.Ala115Val
ENST00000257895.9:c.344C>T	ENSP00000257895.5:p.Ala115Val
ENST00000257899.3:c.359C>T
ENST00000547072.5:c.53C>T	ENSP00000449927.1:p.Ala18Val
ENST00000547301.1:n.452C>T
ENST00000548082.1:c.344C>T	ENSP00000447128.1:p.Ala115Val
ENST00000548123.1:c.300+228C>T
ENST00000548486.1:n.354C>T
ENST00000549424.1:c.*16C>T	ENSP00000447621.1:n.*16C>T
ENST00000550412.5:c.*16C>T	ENSP00000447650.1:n.*16C>T
ENST00000550608.1:n.483C>T
ENST00000551946.5:c.*147C>T	ENSP00000450201.1:n.*147C>T
ENST00000552930.5:c.53C>T	ENSP00000448014.1:p.Ala18Val
ENST00000553160.1:n.406-473C>T
ENST00000553187.5:n.354C>T
NM_001199771.1:c.344C>T	NP_001186700.1:p.Ala115Val
NM_002905.3:c.344C>T	NP_002896.2:p.Ala115Val
NR_037658.1:n.403C>T
NM_001199771.2:c.344C>T	NP_001186700.1:p.Ala115Val
NM_002905.5:c.344C>T MANE Select	NP_002896.2:p.Ala115Val
NM_001199771.3:c.344C>T	NP_001186700.1:p.Ala115Val