Canonical Allele Identifier: CA6616801

Gene: RDH5

Linked Data

• dbSNP Id: rs749431908
• ExAC: 12:56115439 A / G
• gnomAD v2: 12-56115439-A-G
• gnomAD v3: 12-55721655-A-G
• gnomAD v4: 12-55721655-A-G
• MyVariant Identifiers: chr12:g.56115439A>G (hg19) ; chr12:g.55721655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721655A>G , CM000674.2:g.55721655A>G	GRCh38
NC_000012.11:g.56115439A>G , CM000674.1:g.56115439A>G	GRCh37
NC_000012.10:g.54401706A>G	NCBI36
NG_008606.1:g.6289A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-34A>G MANE Select	ENSP00000257895.6:n.311-34A>G
ENST00000257895.9:c.311-34A>G	ENSP00000257895.5:n.311-34A>G
ENST00000257899.3:c.326-34A>G
ENST00000547072.5:c.20-34A>G	ENSP00000449927.1:n.20-34A>G
ENST00000547301.1:n.385A>G
ENST00000548082.1:c.311-34A>G	ENSP00000447128.1:n.311-34A>G
ENST00000548123.1:c.300+161A>G
ENST00000548486.1:n.321-34A>G
ENST00000549424.1:c.118-34A>G	ENSP00000447621.1:n.118-34A>G
ENST00000550412.5:c.352-34A>G	ENSP00000447650.1:n.352-34A>G
ENST00000550608.1:n.450-34A>G
ENST00000551946.5:c.*114-34A>G	ENSP00000450201.1:n.*114-34A>G
ENST00000552930.5:c.20-34A>G	ENSP00000448014.1:n.20-34A>G
ENST00000553160.1:n.406-540A>G
ENST00000553187.5:n.321-34A>G
NM_001199771.1:c.311-34A>G	NP_001186700.1:n.311-34A>G
NM_002905.3:c.311-34A>G	NP_002896.2:n.311-34A>G
NR_037658.1:n.370-34A>G
NM_001199771.2:c.311-34A>G	NP_001186700.1:n.311-34A>G
NM_002905.5:c.311-34A>G MANE Select	NP_002896.2:n.311-34A>G
NM_001199771.3:c.311-34A>G	NP_001186700.1:n.311-34A>G