Canonical Allele Identifier: CA2038069352

Gene: RDH5

Linked Data

• dbSNP Id: rs1876921273
• gnomAD v4: 12-55721581-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721581A>T , CM000674.2:g.55721581A>T	GRCh38
NC_000012.11:g.56115365A>T , CM000674.1:g.56115365A>T	GRCh37
NC_000012.10:g.54401632A>T	NCBI36
NG_008606.1:g.6215A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+87A>T MANE Select	ENSP00000257895.6:n.310+87A>T
ENST00000257895.9:c.310+87A>T	ENSP00000257895.5:n.310+87A>T
ENST00000257899.3:c.326-108A>T
ENST00000547072.5:c.19+87A>T	ENSP00000449927.1:n.19+87A>T
ENST00000547301.1:n.311A>T
ENST00000548082.1:c.310+87A>T	ENSP00000447128.1:n.310+87A>T
ENST00000548123.1:c.300+87A>T
ENST00000548486.1:n.320+87A>T
ENST00000549424.1:c.118-108A>T	ENSP00000447621.1:n.118-108A>T
ENST00000550412.5:c.352-108A>T	ENSP00000447650.1:n.352-108A>T
ENST00000550608.1:n.449+87A>T
ENST00000551946.5:c.*114-108A>T	ENSP00000450201.1:n.*114-108A>T
ENST00000552930.5:c.19+87A>T	ENSP00000448014.1:n.19+87A>T
ENST00000553160.1:n.406-614A>T
ENST00000553187.5:n.320+87A>T
NM_001199771.1:c.310+87A>T	NP_001186700.1:n.310+87A>T
NM_002905.3:c.310+87A>T	NP_002896.2:n.310+87A>T
NR_037658.1:n.370-108A>T
NM_001199771.2:c.310+87A>T	NP_001186700.1:n.310+87A>T
NM_002905.5:c.310+87A>T MANE Select	NP_002896.2:n.310+87A>T
NM_001199771.3:c.310+87A>T	NP_001186700.1:n.310+87A>T