Canonical Allele Identifier: CA6616837

Gene: RDH5

Linked Data

• dbSNP Id: rs370184141
• ExAC: 12:56115572 C / T
• gnomAD v2: 12-56115572-C-T
• gnomAD v3: 12-55721788-C-T
• gnomAD v4: 12-55721788-C-T
• MyVariant Identifiers: chr12:g.56115572C>T (hg19) ; chr12:g.55721788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721788C>T , CM000674.2:g.55721788C>T	GRCh38
NC_000012.11:g.56115572C>T , CM000674.1:g.56115572C>T	GRCh37
NC_000012.10:g.54401839C>T	NCBI36
NG_008606.1:g.6422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.410C>T MANE Select	ENSP00000257895.6:p.Thr137Ile
ENST00000257895.9:c.410C>T	ENSP00000257895.5:p.Thr137Ile
ENST00000257899.3:c.425C>T
ENST00000547072.5:c.119C>T	ENSP00000449927.1:p.Thr40Ile
ENST00000547301.1:n.518C>T
ENST00000548082.1:c.410C>T	ENSP00000447128.1:p.Thr137Ile
ENST00000548123.1:c.300+294C>T
ENST00000548486.1:n.420C>T
ENST00000549424.1:c.*82C>T	ENSP00000447621.1:n.*82C>T
ENST00000550412.5:c.*82C>T	ENSP00000447650.1:n.*82C>T
ENST00000550608.1:n.549C>T
ENST00000551946.5:c.*213C>T	ENSP00000450201.1:n.*213C>T
ENST00000552930.5:c.119C>T	ENSP00000448014.1:p.Thr40Ile
ENST00000553160.1:n.406-407C>T
ENST00000553187.5:n.420C>T
NM_001199771.1:c.410C>T	NP_001186700.1:p.Thr137Ile
NM_002905.3:c.410C>T	NP_002896.2:p.Thr137Ile
NR_037658.1:n.469C>T
NM_001199771.2:c.410C>T	NP_001186700.1:p.Thr137Ile
NM_002905.5:c.410C>T MANE Select	NP_002896.2:p.Thr137Ile
NM_001199771.3:c.410C>T	NP_001186700.1:p.Thr137Ile