Canonical Allele Identifier: CA385201224

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115718T>C (hg19) ; chr12:g.55721934T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721934T>C , CM000674.2:g.55721934T>C	GRCh38
NC_000012.11:g.56115718T>C , CM000674.1:g.56115718T>C	GRCh37
NC_000012.10:g.54401985T>C	NCBI36
NG_008606.1:g.6568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.556T>C MANE Select	ENSP00000257895.6:p.Ser186Pro
ENST00000257895.9:c.556T>C	ENSP00000257895.5:p.Ser186Pro
ENST00000257899.3:c.571T>C
ENST00000547072.5:c.265T>C	ENSP00000449927.1:p.Ser89Pro
ENST00000548082.1:c.556T>C	ENSP00000447128.1:p.Ser186Pro
ENST00000548123.1:c.300+440T>C
ENST00000548486.1:n.566T>C
ENST00000550412.5:c.*228T>C	ENSP00000447650.1:n.*228T>C
ENST00000550608.1:n.695T>C
ENST00000551946.5:c.*359T>C	ENSP00000450201.1:n.*359T>C
ENST00000553160.1:n.406-261T>C
ENST00000553187.5:n.566T>C
NM_001199771.1:c.556T>C	NP_001186700.1:p.Ser186Pro
NM_002905.3:c.556T>C	NP_002896.2:p.Ser186Pro
NR_037658.1:n.615T>C
NM_001199771.2:c.556T>C	NP_001186700.1:p.Ser186Pro
NM_002905.5:c.556T>C MANE Select	NP_002896.2:p.Ser186Pro
NM_001199771.3:c.556T>C	NP_001186700.1:p.Ser186Pro