Canonical Allele Identifier: CA2038069359

Gene: RDH5

Linked Data

• dbSNP Id: rs1876921910
• gnomAD v4: 12-55721597-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721601_55721603del , CM000674.2:g.55721601_55721603del	GRCh38
NC_000012.11:g.56115385_56115387del , CM000674.1:g.56115385_56115387del	GRCh37
NC_000012.10:g.54401652_54401654del	NCBI36
NG_008606.1:g.6235_6237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-88_311-86del MANE Select	ENSP00000257895.6:n.311-88_311-86del
ENST00000257895.9:c.311-88_311-86del	ENSP00000257895.5:n.311-88_311-86del
ENST00000257899.3:c.326-88_326-86del
ENST00000547072.5:c.20-88_20-86del	ENSP00000449927.1:n.20-88_20-86del
ENST00000547301.1:n.331_333del
ENST00000548082.1:c.311-88_311-86del	ENSP00000447128.1:n.311-88_311-86del
ENST00000548123.1:c.300+107_300+109del
ENST00000548486.1:n.321-88_321-86del
ENST00000549424.1:c.118-88_118-86del	ENSP00000447621.1:n.118-88_118-86del
ENST00000550412.5:c.352-88_352-86del	ENSP00000447650.1:n.352-88_352-86del
ENST00000550608.1:n.450-88_450-86del
ENST00000551946.5:c.*114-88_*114-86del	ENSP00000450201.1:n.*114-88_*114-86del
ENST00000552930.5:c.20-88_20-86del	ENSP00000448014.1:n.20-88_20-86del
ENST00000553160.1:n.406-594_406-592del
ENST00000553187.5:n.321-88_321-86del
NM_001199771.1:c.311-88_311-86del	NP_001186700.1:n.311-88_311-86del
NM_002905.3:c.311-88_311-86del	NP_002896.2:n.311-88_311-86del
NR_037658.1:n.370-88_370-86del
NM_001199771.2:c.311-88_311-86del	NP_001186700.1:n.311-88_311-86del
NM_002905.5:c.311-88_311-86del MANE Select	NP_002896.2:n.311-88_311-86del
NM_001199771.3:c.311-88_311-86del	NP_001186700.1:n.311-88_311-86del