Canonical Allele Identifier: CA2619204941

Gene: RDH5

Linked Data

• gnomAD v4: 12-55722034-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722034A>T , CM000674.2:g.55722034A>T	GRCh38
NC_000012.11:g.56115818A>T , CM000674.1:g.56115818A>T	GRCh37
NC_000012.10:g.54402085A>T	NCBI36
NG_008606.1:g.6668A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+87A>T MANE Select	ENSP00000257895.6:n.569+87A>T
ENST00000257895.9:c.569+87A>T	ENSP00000257895.5:n.569+87A>T
ENST00000257899.3:c.591+80A>T
ENST00000547072.5:c.278+87A>T	ENSP00000449927.1:n.278+87A>T
ENST00000548082.1:c.569+87A>T	ENSP00000447128.1:n.569+87A>T
ENST00000548123.1:c.300+540A>T
ENST00000548486.1:n.666A>T
ENST00000550412.5:c.*328A>T	ENSP00000447650.1:n.*328A>T
ENST00000550608.1:n.795A>T
ENST00000551946.5:c.*459A>T	ENSP00000450201.1:n.*459A>T
ENST00000553160.1:n.406-161A>T
NM_001199771.1:c.569+87A>T	NP_001186700.1:n.569+87A>T
NM_002905.3:c.569+87A>T	NP_002896.2:n.569+87A>T
NR_037658.1:n.628+87A>T
NM_001199771.2:c.569+87A>T	NP_001186700.1:n.569+87A>T
NM_002905.5:c.569+87A>T MANE Select	NP_002896.2:n.569+87A>T
NM_001199771.3:c.569+87A>T	NP_001186700.1:n.569+87A>T