Canonical Allele Identifier: CA385201068

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721884-C-T
• MyVariant Identifiers: chr12:g.56115668C>T (hg19) ; chr12:g.55721884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721884C>T , CM000674.2:g.55721884C>T	GRCh38
NC_000012.11:g.56115668C>T , CM000674.1:g.56115668C>T	GRCh37
NC_000012.10:g.54401935C>T	NCBI36
NG_008606.1:g.6518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.506C>T MANE Select	ENSP00000257895.6:p.Ala169Val
ENST00000257895.9:c.506C>T	ENSP00000257895.5:p.Ala169Val
ENST00000257899.3:c.521C>T
ENST00000547072.5:c.215C>T	ENSP00000449927.1:p.Ala72Val
ENST00000548082.1:c.506C>T	ENSP00000447128.1:p.Ala169Val
ENST00000548123.1:c.300+390C>T
ENST00000548486.1:n.516C>T
ENST00000550412.5:c.*178C>T	ENSP00000447650.1:n.*178C>T
ENST00000550608.1:n.645C>T
ENST00000551946.5:c.*309C>T	ENSP00000450201.1:n.*309C>T
ENST00000553160.1:n.406-311C>T
ENST00000553187.5:n.516C>T
NM_001199771.1:c.506C>T	NP_001186700.1:p.Ala169Val
NM_002905.3:c.506C>T	NP_002896.2:p.Ala169Val
NR_037658.1:n.565C>T
NM_001199771.2:c.506C>T	NP_001186700.1:p.Ala169Val
NM_002905.5:c.506C>T MANE Select	NP_002896.2:p.Ala169Val
NM_001199771.3:c.506C>T	NP_001186700.1:p.Ala169Val