Canonical Allele Identifier: CA605247216

Gene: RDH5

Linked Data

• dbSNP Id: rs567868189
• gnomAD v2: 12-56115743-A-G
• gnomAD v3: 12-55721959-A-G
• gnomAD v4: 12-55721959-A-G
• MyVariant Identifiers: chr12:g.56115743A>G (hg19) ; chr12:g.55721959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721959A>G , CM000674.2:g.55721959A>G	GRCh38
NC_000012.11:g.56115743A>G , CM000674.1:g.56115743A>G	GRCh37
NC_000012.10:g.54402010A>G	NCBI36
NG_008606.1:g.6593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+12A>G MANE Select	ENSP00000257895.6:n.569+12A>G
ENST00000257895.9:c.569+12A>G	ENSP00000257895.5:n.569+12A>G
ENST00000257899.3:c.591+5A>G
ENST00000547072.5:c.278+12A>G	ENSP00000449927.1:n.278+12A>G
ENST00000548082.1:c.569+12A>G	ENSP00000447128.1:n.569+12A>G
ENST00000548123.1:c.300+465A>G
ENST00000548486.1:n.591A>G
ENST00000550412.5:c.*253A>G	ENSP00000447650.1:n.*253A>G
ENST00000550608.1:n.720A>G
ENST00000551946.5:c.*384A>G	ENSP00000450201.1:n.*384A>G
ENST00000553160.1:n.406-236A>G
ENST00000553187.5:n.591A>G
NM_001199771.1:c.569+12A>G	NP_001186700.1:n.569+12A>G
NM_002905.3:c.569+12A>G	NP_002896.2:n.569+12A>G
NR_037658.1:n.628+12A>G
NM_001199771.2:c.569+12A>G	NP_001186700.1:n.569+12A>G
NM_002905.5:c.569+12A>G MANE Select	NP_002896.2:n.569+12A>G
NM_001199771.3:c.569+12A>G	NP_001186700.1:n.569+12A>G