Canonical Allele Identifier: CA385201220

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115717C>G (hg19) ; chr12:g.55721933C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721933C>G , CM000674.2:g.55721933C>G	GRCh38
NC_000012.11:g.56115717C>G , CM000674.1:g.56115717C>G	GRCh37
NC_000012.10:g.54401984C>G	NCBI36
NG_008606.1:g.6567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.555C>G MANE Select	ENSP00000257895.6:p.Phe185Leu
ENST00000257895.9:c.555C>G	ENSP00000257895.5:p.Phe185Leu
ENST00000257899.3:c.570C>G
ENST00000547072.5:c.264C>G	ENSP00000449927.1:p.Phe88Leu
ENST00000548082.1:c.555C>G	ENSP00000447128.1:p.Phe185Leu
ENST00000548123.1:c.300+439C>G
ENST00000548486.1:n.565C>G
ENST00000550412.5:c.*227C>G	ENSP00000447650.1:n.*227C>G
ENST00000550608.1:n.694C>G
ENST00000551946.5:c.*358C>G	ENSP00000450201.1:n.*358C>G
ENST00000553160.1:n.406-262C>G
ENST00000553187.5:n.565C>G
NM_001199771.1:c.555C>G	NP_001186700.1:p.Phe185Leu
NM_002905.3:c.555C>G	NP_002896.2:p.Phe185Leu
NR_037658.1:n.614C>G
NM_001199771.2:c.555C>G	NP_001186700.1:p.Phe185Leu
NM_002905.5:c.555C>G MANE Select	NP_002896.2:p.Phe185Leu
NM_001199771.3:c.555C>G	NP_001186700.1:p.Phe185Leu