Canonical Allele Identifier: CA237593557

Gene: RDH5

Linked Data

• dbSNP Id: rs929181282
• gnomAD v4: 12-55721543-C-T
• MyVariant Identifiers: chr12:g.56115327C>T (hg19) ; chr12:g.55721543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721543C>T , CM000674.2:g.55721543C>T	GRCh38
NC_000012.11:g.56115327C>T , CM000674.1:g.56115327C>T	GRCh37
NC_000012.10:g.54401594C>T	NCBI36
NG_008606.1:g.6177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+49C>T MANE Select	ENSP00000257895.6:n.310+49C>T
ENST00000257895.9:c.310+49C>T	ENSP00000257895.5:n.310+49C>T
ENST00000257899.3:c.326-146C>T
ENST00000547072.5:c.19+49C>T	ENSP00000449927.1:n.19+49C>T
ENST00000547301.1:n.273C>T
ENST00000548082.1:c.310+49C>T	ENSP00000447128.1:n.310+49C>T
ENST00000548123.1:c.300+49C>T
ENST00000548486.1:n.320+49C>T
ENST00000549424.1:c.118-146C>T	ENSP00000447621.1:n.118-146C>T
ENST00000550412.5:c.352-146C>T	ENSP00000447650.1:n.352-146C>T
ENST00000550608.1:n.449+49C>T
ENST00000551946.5:c.*114-146C>T	ENSP00000450201.1:n.*114-146C>T
ENST00000552930.5:c.19+49C>T	ENSP00000448014.1:n.19+49C>T
ENST00000553160.1:n.406-652C>T
ENST00000553187.5:n.320+49C>T
NM_001199771.1:c.310+49C>T	NP_001186700.1:n.310+49C>T
NM_002905.3:c.310+49C>T	NP_002896.2:n.310+49C>T
NR_037658.1:n.370-146C>T
NM_001199771.2:c.310+49C>T	NP_001186700.1:n.310+49C>T
NM_002905.5:c.310+49C>T MANE Select	NP_002896.2:n.310+49C>T
NM_001199771.3:c.310+49C>T	NP_001186700.1:n.310+49C>T