Canonical Allele Identifier: CA480154830

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721717-T-A
• MyVariant Identifiers: chr12:g.56115501T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721717T>A , CM000674.2:g.55721717T>A	GRCh38
NC_000012.11:g.56115501T>A , CM000674.1:g.56115501T>A	GRCh37
NC_000012.10:g.54401768T>A	NCBI36
NG_008606.1:g.6351T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.339T>A MANE Select	ENSP00000257895.6:p.Gly113=
ENST00000257895.9:c.339T>A	ENSP00000257895.5:p.Gly113=
ENST00000257899.3:c.354T>A
ENST00000547072.5:c.48T>A	ENSP00000449927.1:p.Gly16=
ENST00000547301.1:n.447T>A
ENST00000548082.1:c.339T>A	ENSP00000447128.1:p.Gly113=
ENST00000548123.1:c.300+223T>A
ENST00000548486.1:n.349T>A
ENST00000549424.1:c.*11T>A	ENSP00000447621.1:n.*11T>A
ENST00000550412.5:c.*11T>A	ENSP00000447650.1:n.*11T>A
ENST00000550608.1:n.478T>A
ENST00000551946.5:c.*142T>A	ENSP00000450201.1:n.*142T>A
ENST00000552930.5:c.48T>A	ENSP00000448014.1:p.Gly16=
ENST00000553160.1:n.406-478T>A
ENST00000553187.5:n.349T>A
NM_001199771.1:c.339T>A	NP_001186700.1:p.Gly113=
NM_002905.3:c.339T>A	NP_002896.2:p.Gly113=
NR_037658.1:n.398T>A
NM_001199771.2:c.339T>A	NP_001186700.1:p.Gly113=
NM_002905.5:c.339T>A MANE Select	NP_002896.2:p.Gly113=
NM_001199771.3:c.339T>A	NP_001186700.1:p.Gly113=