Canonical Allele Identifier: CA385200841

Gene: RDH5

Linked Data

• dbSNP Id: rs1592521488
• MyVariant Identifiers: chr12:g.56115590T>G (hg19) ; chr12:g.55721806T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721806T>G , CM000674.2:g.55721806T>G	GRCh38
NC_000012.11:g.56115590T>G , CM000674.1:g.56115590T>G	GRCh37
NC_000012.10:g.54401857T>G	NCBI36
NG_008606.1:g.6440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.428T>G MANE Select	ENSP00000257895.6:p.Val143Gly
ENST00000257895.9:c.428T>G	ENSP00000257895.5:p.Val143Gly
ENST00000257899.3:c.443T>G
ENST00000547072.5:c.137T>G	ENSP00000449927.1:p.Val46Gly
ENST00000547301.1:n.536T>G
ENST00000548082.1:c.428T>G	ENSP00000447128.1:p.Val143Gly
ENST00000548123.1:c.300+312T>G
ENST00000548486.1:n.438T>G
ENST00000550412.5:c.*100T>G	ENSP00000447650.1:n.*100T>G
ENST00000550608.1:n.567T>G
ENST00000551946.5:c.*231T>G	ENSP00000450201.1:n.*231T>G
ENST00000552930.5:c.137T>G	ENSP00000448014.1:p.Val46Gly
ENST00000553160.1:n.406-389T>G
ENST00000553187.5:n.438T>G
NM_001199771.1:c.428T>G	NP_001186700.1:p.Val143Gly
NM_002905.3:c.428T>G	NP_002896.2:p.Val143Gly
NR_037658.1:n.487T>G
NM_001199771.2:c.428T>G	NP_001186700.1:p.Val143Gly
NM_002905.5:c.428T>G MANE Select	NP_002896.2:p.Val143Gly
NM_001199771.3:c.428T>G	NP_001186700.1:p.Val143Gly