Canonical Allele Identifier: CA237593817

Gene: RDH5

Linked Data

• dbSNP Id: rs939625555
• gnomAD v3: 12-55721990-C-T
• gnomAD v4: 12-55721990-C-T
• MyVariant Identifiers: chr12:g.56115774C>T (hg19) ; chr12:g.55721990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721990C>T , CM000674.2:g.55721990C>T	GRCh38
NC_000012.11:g.56115774C>T , CM000674.1:g.56115774C>T	GRCh37
NC_000012.10:g.54402041C>T	NCBI36
NG_008606.1:g.6624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+43C>T MANE Select	ENSP00000257895.6:n.569+43C>T
ENST00000257895.9:c.569+43C>T	ENSP00000257895.5:n.569+43C>T
ENST00000257899.3:c.591+36C>T
ENST00000547072.5:c.278+43C>T	ENSP00000449927.1:n.278+43C>T
ENST00000548082.1:c.569+43C>T	ENSP00000447128.1:n.569+43C>T
ENST00000548123.1:c.300+496C>T
ENST00000548486.1:n.622C>T
ENST00000550412.5:c.*284C>T	ENSP00000447650.1:n.*284C>T
ENST00000550608.1:n.751C>T
ENST00000551946.5:c.*415C>T	ENSP00000450201.1:n.*415C>T
ENST00000553160.1:n.406-205C>T
ENST00000553187.5:n.622C>T
NM_001199771.1:c.569+43C>T	NP_001186700.1:n.569+43C>T
NM_002905.3:c.569+43C>T	NP_002896.2:n.569+43C>T
NR_037658.1:n.628+43C>T
NM_001199771.2:c.569+43C>T	NP_001186700.1:n.569+43C>T
NM_002905.5:c.569+43C>T MANE Select	NP_002896.2:n.569+43C>T
NM_001199771.3:c.569+43C>T	NP_001186700.1:n.569+43C>T