Canonical Allele Identifier: CA2619204984

Gene: RDH5

Linked Data

• gnomAD v4: 12-55722064-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722064G>T , CM000674.2:g.55722064G>T	GRCh38
NC_000012.11:g.56115848G>T , CM000674.1:g.56115848G>T	GRCh37
NC_000012.10:g.54402115G>T	NCBI36
NG_008606.1:g.6698G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+117G>T MANE Select	ENSP00000257895.6:n.569+117G>T
ENST00000257895.9:c.569+117G>T	ENSP00000257895.5:n.569+117G>T
ENST00000257899.3:c.591+110G>T
ENST00000547072.5:c.278+117G>T	ENSP00000449927.1:n.278+117G>T
ENST00000548082.1:c.569+117G>T	ENSP00000447128.1:n.569+117G>T
ENST00000548123.1:c.300+570G>T
ENST00000548486.1:n.696G>T
ENST00000550412.5:c.*358G>T	ENSP00000447650.1:n.*358G>T
ENST00000550608.1:n.825G>T
ENST00000551946.5:c.*489G>T	ENSP00000450201.1:n.*489G>T
ENST00000553160.1:n.406-131G>T
NM_001199771.1:c.569+117G>T	NP_001186700.1:n.569+117G>T
NM_002905.3:c.569+117G>T	NP_002896.2:n.569+117G>T
NR_037658.1:n.628+117G>T
NM_001199771.2:c.569+117G>T	NP_001186700.1:n.569+117G>T
NM_002905.5:c.569+117G>T MANE Select	NP_002896.2:n.569+117G>T
NM_001199771.3:c.569+117G>T	NP_001186700.1:n.569+117G>T