Canonical Allele Identifier: CA2038069330

Gene: RDH5

Linked Data

• dbSNP Id: rs1876918900

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721520_55721522del , CM000674.2:g.55721520_55721522del	GRCh38
NC_000012.11:g.56115304_56115306del , CM000674.1:g.56115304_56115306del	GRCh37
NC_000012.10:g.54401571_54401573del	NCBI36
NG_008606.1:g.6154_6156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+26_310+28del MANE Select	ENSP00000257895.6:n.310+26_310+28del
ENST00000257895.9:c.310+26_310+28del	ENSP00000257895.5:n.310+26_310+28del
ENST00000257899.3:c.326-169_326-167del
ENST00000547072.5:c.19+26_19+28del	ENSP00000449927.1:n.19+26_19+28del
ENST00000547301.1:n.250_252del
ENST00000548082.1:c.310+26_310+28del	ENSP00000447128.1:n.310+26_310+28del
ENST00000548123.1:c.300+26_300+28del
ENST00000548486.1:n.320+26_320+28del
ENST00000549424.1:c.118-169_118-167del	ENSP00000447621.1:n.118-169_118-167del
ENST00000550412.5:c.352-169_352-167del	ENSP00000447650.1:n.352-169_352-167del
ENST00000550608.1:n.449+26_449+28del
ENST00000551946.5:c.*114-169_*114-167del	ENSP00000450201.1:n.*114-169_*114-167del
ENST00000552930.5:c.19+26_19+28del	ENSP00000448014.1:n.19+26_19+28del
ENST00000553160.1:n.406-675_406-673del
ENST00000553187.5:n.320+26_320+28del
NM_001199771.1:c.310+26_310+28del	NP_001186700.1:n.310+26_310+28del
NM_002905.3:c.310+26_310+28del	NP_002896.2:n.310+26_310+28del
NR_037658.1:n.370-169_370-167del
NM_001199771.2:c.310+26_310+28del	NP_001186700.1:n.310+26_310+28del
NM_002905.5:c.310+26_310+28del MANE Select	NP_002896.2:n.310+26_310+28del
NM_001199771.3:c.310+26_310+28del	NP_001186700.1:n.310+26_310+28del