Canonical Allele Identifier: CA2619204986

Gene: RDH5

Linked Data

• gnomAD v4: 12-55722066-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722066T>C , CM000674.2:g.55722066T>C	GRCh38
NC_000012.11:g.56115850T>C , CM000674.1:g.56115850T>C	GRCh37
NC_000012.10:g.54402117T>C	NCBI36
NG_008606.1:g.6700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+119T>C MANE Select	ENSP00000257895.6:n.569+119T>C
ENST00000257895.9:c.569+119T>C	ENSP00000257895.5:n.569+119T>C
ENST00000257899.3:c.591+112T>C
ENST00000547072.5:c.278+119T>C	ENSP00000449927.1:n.278+119T>C
ENST00000548082.1:c.569+119T>C	ENSP00000447128.1:n.569+119T>C
ENST00000548123.1:c.300+572T>C
ENST00000548486.1:n.698T>C
ENST00000550412.5:c.*360T>C	ENSP00000447650.1:n.*360T>C
ENST00000550608.1:n.827T>C
ENST00000551946.5:c.*491T>C	ENSP00000450201.1:n.*491T>C
ENST00000553160.1:n.406-129T>C
NM_001199771.1:c.569+119T>C	NP_001186700.1:n.569+119T>C
NM_002905.3:c.569+119T>C	NP_002896.2:n.569+119T>C
NR_037658.1:n.628+119T>C
NM_001199771.2:c.569+119T>C	NP_001186700.1:n.569+119T>C
NM_002905.5:c.569+119T>C MANE Select	NP_002896.2:n.569+119T>C
NM_001199771.3:c.569+119T>C	NP_001186700.1:n.569+119T>C