Canonical Allele Identifier: CA385201171

Gene: RDH5

Linked Data

• ClinVar Variation Id: 2119328
• ClinVar RCV Id: RCV003033037
• dbSNP Id: rs1375668222
• gnomAD v3: 12-55721919-G-A
• gnomAD v4: 12-55721919-G-A
• MyVariant Identifiers: chr12:g.56115703G>A (hg19) ; chr12:g.55721919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721919G>A , CM000674.2:g.55721919G>A	GRCh38
NC_000012.11:g.56115703G>A , CM000674.1:g.56115703G>A	GRCh37
NC_000012.10:g.54401970G>A	NCBI36
NG_008606.1:g.6553G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.541G>A MANE Select	ENSP00000257895.6:p.Gly181Ser
ENST00000257895.9:c.541G>A	ENSP00000257895.5:p.Gly181Ser
ENST00000257899.3:c.556G>A
ENST00000547072.5:c.250G>A	ENSP00000449927.1:p.Gly84Ser
ENST00000548082.1:c.541G>A	ENSP00000447128.1:p.Gly181Ser
ENST00000548123.1:c.300+425G>A
ENST00000548486.1:n.551G>A
ENST00000550412.5:c.*213G>A	ENSP00000447650.1:n.*213G>A
ENST00000550608.1:n.680G>A
ENST00000551946.5:c.*344G>A	ENSP00000450201.1:n.*344G>A
ENST00000553160.1:n.406-276G>A
ENST00000553187.5:n.551G>A
NM_001199771.1:c.541G>A	NP_001186700.1:p.Gly181Ser
NM_002905.3:c.541G>A	NP_002896.2:p.Gly181Ser
NR_037658.1:n.600G>A
NM_001199771.2:c.541G>A	NP_001186700.1:p.Gly181Ser
NM_002905.5:c.541G>A MANE Select	NP_002896.2:p.Gly181Ser
NM_001199771.3:c.541G>A	NP_001186700.1:p.Gly181Ser