Canonical Allele Identifier: CA385201273

Gene: RDH5

Linked Data

• ClinVar Variation Id: 2765616
• ClinVar RCV Id: RCV003578403
• gnomAD v4: 12-55721948-G-A
• MyVariant Identifiers: chr12:g.56115732G>A (hg19) ; chr12:g.55721948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721948G>A , CM000674.2:g.55721948G>A	GRCh38
NC_000012.11:g.56115732G>A , CM000674.1:g.56115732G>A	GRCh37
NC_000012.10:g.54401999G>A	NCBI36
NG_008606.1:g.6582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+1G>A MANE Select	ENSP00000257895.6:n.569+1G>A
ENST00000257895.9:c.569+1G>A	ENSP00000257895.5:n.569+1G>A
ENST00000257899.3:c.585G>A
ENST00000547072.5:c.278+1G>A	ENSP00000449927.1:n.278+1G>A
ENST00000548082.1:c.569+1G>A	ENSP00000447128.1:n.569+1G>A
ENST00000548123.1:c.300+454G>A
ENST00000548486.1:n.580G>A
ENST00000550412.5:c.*242G>A	ENSP00000447650.1:n.*242G>A
ENST00000550608.1:n.709G>A
ENST00000551946.5:c.*373G>A	ENSP00000450201.1:n.*373G>A
ENST00000553160.1:n.406-247G>A
ENST00000553187.5:n.580G>A
NM_001199771.1:c.569+1G>A	NP_001186700.1:n.569+1G>A
NM_002905.3:c.569+1G>A	NP_002896.2:n.569+1G>A
NR_037658.1:n.628+1G>A
NM_001199771.2:c.569+1G>A	NP_001186700.1:n.569+1G>A
NM_002905.5:c.569+1G>A MANE Select	NP_002896.2:n.569+1G>A
NM_001199771.3:c.569+1G>A	NP_001186700.1:n.569+1G>A