Canonical Allele Identifier: CA605247217

Gene: RDH5

Linked Data

• dbSNP Id: rs1427944676
• gnomAD v2: 12-56115753-G-A
• gnomAD v4: 12-55721969-G-A
• MyVariant Identifiers: chr12:g.56115753G>A (hg19) ; chr12:g.55721969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721969G>A , CM000674.2:g.55721969G>A	GRCh38
NC_000012.11:g.56115753G>A , CM000674.1:g.56115753G>A	GRCh37
NC_000012.10:g.54402020G>A	NCBI36
NG_008606.1:g.6603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+22G>A MANE Select	ENSP00000257895.6:n.569+22G>A
ENST00000257895.9:c.569+22G>A	ENSP00000257895.5:n.569+22G>A
ENST00000257899.3:c.591+15G>A
ENST00000547072.5:c.278+22G>A	ENSP00000449927.1:n.278+22G>A
ENST00000548082.1:c.569+22G>A	ENSP00000447128.1:n.569+22G>A
ENST00000548123.1:c.300+475G>A
ENST00000548486.1:n.601G>A
ENST00000550412.5:c.*263G>A	ENSP00000447650.1:n.*263G>A
ENST00000550608.1:n.730G>A
ENST00000551946.5:c.*394G>A	ENSP00000450201.1:n.*394G>A
ENST00000553160.1:n.406-226G>A
ENST00000553187.5:n.601G>A
NM_001199771.1:c.569+22G>A	NP_001186700.1:n.569+22G>A
NM_002905.3:c.569+22G>A	NP_002896.2:n.569+22G>A
NR_037658.1:n.628+22G>A
NM_001199771.2:c.569+22G>A	NP_001186700.1:n.569+22G>A
NM_002905.5:c.569+22G>A MANE Select	NP_002896.2:n.569+22G>A
NM_001199771.3:c.569+22G>A	NP_001186700.1:n.569+22G>A