Canonical Allele Identifier: CA385200694

Gene: RDH5

Linked Data

• dbSNP Id: rs1422930987
• gnomAD v3: 12-55721752-C-A
• gnomAD v4: 12-55721752-C-A
• MyVariant Identifiers: chr12:g.56115536C>A (hg19) ; chr12:g.55721752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721752C>A , CM000674.2:g.55721752C>A	GRCh38
NC_000012.11:g.56115536C>A , CM000674.1:g.56115536C>A	GRCh37
NC_000012.10:g.54401803C>A	NCBI36
NG_008606.1:g.6386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.374C>A MANE Select	ENSP00000257895.6:p.Thr125Asn
ENST00000257895.9:c.374C>A	ENSP00000257895.5:p.Thr125Asn
ENST00000257899.3:c.389C>A
ENST00000547072.5:c.83C>A	ENSP00000449927.1:p.Thr28Asn
ENST00000547301.1:n.482C>A
ENST00000548082.1:c.374C>A	ENSP00000447128.1:p.Thr125Asn
ENST00000548123.1:c.300+258C>A
ENST00000548486.1:n.384C>A
ENST00000549424.1:c.*46C>A	ENSP00000447621.1:n.*46C>A
ENST00000550412.5:c.*46C>A	ENSP00000447650.1:n.*46C>A
ENST00000550608.1:n.513C>A
ENST00000551946.5:c.*177C>A	ENSP00000450201.1:n.*177C>A
ENST00000552930.5:c.83C>A	ENSP00000448014.1:p.Thr28Asn
ENST00000553160.1:n.406-443C>A
ENST00000553187.5:n.384C>A
NM_001199771.1:c.374C>A	NP_001186700.1:p.Thr125Asn
NM_002905.3:c.374C>A	NP_002896.2:p.Thr125Asn
NR_037658.1:n.433C>A
NM_001199771.2:c.374C>A	NP_001186700.1:p.Thr125Asn
NM_002905.5:c.374C>A MANE Select	NP_002896.2:p.Thr125Asn
NM_001199771.3:c.374C>A	NP_001186700.1:p.Thr125Asn