Canonical Allele Identifier: CA237594921

Gene: RDH5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55724028G>A , CM000674.2:g.55724028G>A	GRCh38
NC_000012.11:g.56117812G>A , CM000674.1:g.56117812G>A	GRCh37
NC_000012.10:g.54404079G>A	NCBI36
NG_008347.1:g.10099C>T
NG_008606.1:g.8662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.712G>A MANE Select	ENSP00000257895.6:p.Gly238Arg
ENST00000257895.9:c.712G>A	ENSP00000257895.5:p.Gly238Arg
ENST00000257899.3:c.592-510G>A
ENST00000547072.5:c.421G>A	ENSP00000449927.1:p.Gly141Arg
ENST00000548082.1:c.712G>A	ENSP00000447128.1:p.Gly238Arg
ENST00000548123.1:c.443G>A
ENST00000550412.5:c.*2322G>A	ENSP00000447650.1:n.*2322G>A
ENST00000551444.1:n.662G>A
NM_001199771.1:c.712G>A	NP_001186700.1:p.Gly238Arg
NM_002905.3:c.712G>A	NP_002896.2:p.Gly238Arg
NR_037658.1:n.771G>A
NM_001199771.2:c.712G>A	NP_001186700.1:p.Gly238Arg
NM_002905.5:c.712G>A MANE Select	NP_002896.2:p.Gly238Arg
NM_001199771.3:c.712G>A	NP_001186700.1:p.Gly238Arg