Canonical Allele Identifier: CA3198861806
Community Standard Title: NM_002905.5(RDH5):c.570-151C=
Gene: RDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55723735C= , CM000674.2:g.55723735C= GRCh38
NC_000012.11:g.56117519C= , CM000674.1:g.56117519C= GRCh37
NC_000012.10:g.54403786C= NCBI36
NG_008347.1:g.10392G=
NG_008606.1:g.8369C=

Transcript Alleles

HGVS Amino-acid Change
NM_002905.5:c.570-151C= MANE Select NP_002896.2:n.570-151C=
ENST00000257895.10:c.570-151C= MANE Select ENSP00000257895.6:n.570-151C=
NM_001199771.1:c.570-151C= NP_001186700.1:n.570-151C=
NM_001199771.2:c.570-151C= NP_001186700.1:n.570-151C=
NM_001199771.3:c.570-151C= NP_001186700.1:n.570-151C=
NM_002905.3:c.570-151C= NP_002896.2:n.570-151C=
NR_037658.1:n.629-151C=
ENST00000257895.9:c.570-151C= ENSP00000257895.5:n.570-151C=
ENST00000257899.3:c.592-803C=
ENST00000547072.5:c.279-151C= ENSP00000449927.1:n.279-151C=
ENST00000548082.1:c.570-151C= ENSP00000447128.1:n.570-151C=
ENST00000548123.1:c.301-151C=
ENST00000550412.5:c.*2029C= ENSP00000447650.1:n.*2029C=
ENST00000551444.1:n.369C=