Canonical Allele Identifier: CA690144917

Gene: RDH5

Linked Data

• dbSNP Id: rs1297403401
• gnomAD v4: 12-55721957-A-G
• MyVariant Identifiers: chr12:g.56115741A>G (hg19) ; chr12:g.55721957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721957A>G , CM000674.2:g.55721957A>G	GRCh38
NC_000012.11:g.56115741A>G , CM000674.1:g.56115741A>G	GRCh37
NC_000012.10:g.54402008A>G	NCBI36
NG_008606.1:g.6591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+10A>G MANE Select	ENSP00000257895.6:n.569+10A>G
ENST00000257895.9:c.569+10A>G	ENSP00000257895.5:n.569+10A>G
ENST00000257899.3:c.591+3A>G
ENST00000547072.5:c.278+10A>G	ENSP00000449927.1:n.278+10A>G
ENST00000548082.1:c.569+10A>G	ENSP00000447128.1:n.569+10A>G
ENST00000548123.1:c.300+463A>G
ENST00000548486.1:n.589A>G
ENST00000550412.5:c.*251A>G	ENSP00000447650.1:n.*251A>G
ENST00000550608.1:n.718A>G
ENST00000551946.5:c.*382A>G	ENSP00000450201.1:n.*382A>G
ENST00000553160.1:n.406-238A>G
ENST00000553187.5:n.589A>G
NM_001199771.1:c.569+10A>G	NP_001186700.1:n.569+10A>G
NM_002905.3:c.569+10A>G	NP_002896.2:n.569+10A>G
NR_037658.1:n.628+10A>G
NM_001199771.2:c.569+10A>G	NP_001186700.1:n.569+10A>G
NM_002905.5:c.569+10A>G MANE Select	NP_002896.2:n.569+10A>G
NM_001199771.3:c.569+10A>G	NP_001186700.1:n.569+10A>G