Canonical Allele Identifier: CA6616849

Gene: RDH5

Linked Data

• dbSNP Id: rs750910053
• ExAC: 12:56115645 C / T
• gnomAD v2: 12-56115645-C-T
• gnomAD v4: 12-55721861-C-T
• MyVariant Identifiers: chr12:g.56115645C>T (hg19) ; chr12:g.55721861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721861C>T , CM000674.2:g.55721861C>T	GRCh38
NC_000012.11:g.56115645C>T , CM000674.1:g.56115645C>T	GRCh37
NC_000012.10:g.54401912C>T	NCBI36
NG_008606.1:g.6495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.483C>T MANE Select	ENSP00000257895.6:p.Ile161=
ENST00000257895.9:c.483C>T	ENSP00000257895.5:p.Ile161=
ENST00000257899.3:c.498C>T
ENST00000547072.5:c.192C>T	ENSP00000449927.1:p.Ile64=
ENST00000548082.1:c.483C>T	ENSP00000447128.1:p.Ile161=
ENST00000548123.1:c.300+367C>T
ENST00000548486.1:n.493C>T
ENST00000550412.5:c.*155C>T	ENSP00000447650.1:n.*155C>T
ENST00000550608.1:n.622C>T
ENST00000551946.5:c.*286C>T	ENSP00000450201.1:n.*286C>T
ENST00000553160.1:n.406-334C>T
ENST00000553187.5:n.493C>T
NM_001199771.1:c.483C>T	NP_001186700.1:p.Ile161=
NM_002905.3:c.483C>T	NP_002896.2:p.Ile161=
NR_037658.1:n.542C>T
NM_001199771.2:c.483C>T	NP_001186700.1:p.Ile161=
NM_002905.5:c.483C>T MANE Select	NP_002896.2:p.Ile161=
NM_001199771.3:c.483C>T	NP_001186700.1:p.Ile161=