Canonical Allele Identifier: CA6616862

Gene: RDH5

Linked Data

• ClinVar Variation Id: 881797
• ClinVar RCV Id: RCV001111055
• dbSNP Id: rs769568052
• ExAC: 12:56115699 A / G
• gnomAD v2: 12-56115699-A-G
• gnomAD v4: 12-55721915-A-G
• MyVariant Identifiers: chr12:g.56115699A>G (hg19) ; chr12:g.55721915A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721915A>G , CM000674.2:g.55721915A>G	GRCh38
NC_000012.11:g.56115699A>G , CM000674.1:g.56115699A>G	GRCh37
NC_000012.10:g.54401966A>G	NCBI36
NG_008606.1:g.6549A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.537A>G MANE Select	ENSP00000257895.6:p.Lys179=
ENST00000257895.9:c.537A>G	ENSP00000257895.5:p.Lys179=
ENST00000257899.3:c.552A>G
ENST00000547072.5:c.246A>G	ENSP00000449927.1:p.Lys82=
ENST00000548082.1:c.537A>G	ENSP00000447128.1:p.Lys179=
ENST00000548123.1:c.300+421A>G
ENST00000548486.1:n.547A>G
ENST00000550412.5:c.*209A>G	ENSP00000447650.1:n.*209A>G
ENST00000550608.1:n.676A>G
ENST00000551946.5:c.*340A>G	ENSP00000450201.1:n.*340A>G
ENST00000553160.1:n.406-280A>G
ENST00000553187.5:n.547A>G
NM_001199771.1:c.537A>G	NP_001186700.1:p.Lys179=
NM_002905.3:c.537A>G	NP_002896.2:p.Lys179=
NR_037658.1:n.596A>G
NM_001199771.2:c.537A>G	NP_001186700.1:p.Lys179=
NM_002905.5:c.537A>G MANE Select	NP_002896.2:p.Lys179=
NM_001199771.3:c.537A>G	NP_001186700.1:p.Lys179=