Canonical Allele Identifier: CA2619204749

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721948-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721949dup , CM000674.2:g.55721949dup	GRCh38
NC_000012.11:g.56115733dup , CM000674.1:g.56115733dup	GRCh37
NC_000012.10:g.54402000dup	NCBI36
NG_008606.1:g.6583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+2dup MANE Select	ENSP00000257895.6:n.569+2dup
ENST00000257895.9:c.569+2dup	ENSP00000257895.5:n.569+2dup
ENST00000257899.3:c.586dup
ENST00000547072.5:c.278+2dup	ENSP00000449927.1:n.278+2dup
ENST00000548082.1:c.569+2dup	ENSP00000447128.1:n.569+2dup
ENST00000548123.1:c.300+455dup
ENST00000548486.1:n.581dup
ENST00000550412.5:c.*243dup	ENSP00000447650.1:n.*243dup
ENST00000550608.1:n.710dup
ENST00000551946.5:c.*374dup	ENSP00000450201.1:n.*374dup
ENST00000553160.1:n.406-246dup
ENST00000553187.5:n.581dup
NM_001199771.1:c.569+2dup	NP_001186700.1:n.569+2dup
NM_002905.3:c.569+2dup	NP_002896.2:n.569+2dup
NR_037658.1:n.628+2dup
NM_001199771.2:c.569+2dup	NP_001186700.1:n.569+2dup
NM_002905.5:c.569+2dup MANE Select	NP_002896.2:n.569+2dup
NM_001199771.3:c.569+2dup	NP_001186700.1:n.569+2dup