Canonical Allele Identifier: CA6616856

Gene: RDH5

Linked Data

• ClinVar Variation Id: 1449521
• ClinVar RCV Id: RCV002004628
• dbSNP Id: rs758411232
• ExAC: 12:56115686 A / T
• gnomAD v2: 12-56115686-A-T
• gnomAD v4: 12-55721902-A-T
• MyVariant Identifiers: chr12:g.56115686A>T (hg19) ; chr12:g.55721902A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721902A>T , CM000674.2:g.55721902A>T	GRCh38
NC_000012.11:g.56115686A>T , CM000674.1:g.56115686A>T	GRCh37
NC_000012.10:g.54401953A>T	NCBI36
NG_008606.1:g.6536A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.524A>T MANE Select	ENSP00000257895.6:p.Tyr175Phe
ENST00000257895.9:c.524A>T	ENSP00000257895.5:p.Tyr175Phe
ENST00000257899.3:c.539A>T
ENST00000547072.5:c.233A>T	ENSP00000449927.1:p.Tyr78Phe
ENST00000548082.1:c.524A>T	ENSP00000447128.1:p.Tyr175Phe
ENST00000548123.1:c.300+408A>T
ENST00000548486.1:n.534A>T
ENST00000550412.5:c.*196A>T	ENSP00000447650.1:n.*196A>T
ENST00000550608.1:n.663A>T
ENST00000551946.5:c.*327A>T	ENSP00000450201.1:n.*327A>T
ENST00000553160.1:n.406-293A>T
ENST00000553187.5:n.534A>T
NM_001199771.1:c.524A>T	NP_001186700.1:p.Tyr175Phe
NM_002905.3:c.524A>T	NP_002896.2:p.Tyr175Phe
NR_037658.1:n.583A>T
NM_001199771.2:c.524A>T	NP_001186700.1:p.Tyr175Phe
NM_002905.5:c.524A>T MANE Select	NP_002896.2:p.Tyr175Phe
NM_001199771.3:c.524A>T	NP_001186700.1:p.Tyr175Phe