Canonical Allele Identifier: CA385200557

Gene: RDH5

Linked Data

• ClinVar Variation Id: 1011305
• ClinVar RCV Id: RCV001309075
• dbSNP Id: rs754600338
• gnomAD v2: 12-56115487-G-C
• gnomAD v3: 12-55721703-G-C
• gnomAD v4: 12-55721703-G-C
• MyVariant Identifiers: chr12:g.56115487G>C (hg19) ; chr12:g.55721703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721703G>C , CM000674.2:g.55721703G>C	GRCh38
NC_000012.11:g.56115487G>C , CM000674.1:g.56115487G>C	GRCh37
NC_000012.10:g.54401754G>C	NCBI36
NG_008606.1:g.6337G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.325G>C MANE Select	ENSP00000257895.6:p.Val109Leu
ENST00000257895.9:c.325G>C	ENSP00000257895.5:p.Val109Leu
ENST00000257899.3:c.340G>C
ENST00000547072.5:c.34G>C	ENSP00000449927.1:p.Val12Leu
ENST00000547301.1:n.433G>C
ENST00000548082.1:c.325G>C	ENSP00000447128.1:p.Val109Leu
ENST00000548123.1:c.300+209G>C
ENST00000548486.1:n.335G>C
ENST00000549424.1:c.132G>C	ENSP00000447621.1:p.Trp44Cys
ENST00000550412.5:c.366G>C	ENSP00000447650.1:p.Trp122Cys
ENST00000550608.1:n.464G>C
ENST00000551946.5:c.*128G>C	ENSP00000450201.1:n.*128G>C
ENST00000552930.5:c.34G>C	ENSP00000448014.1:p.Val12Leu
ENST00000553160.1:n.406-492G>C
ENST00000553187.5:n.335G>C
NM_001199771.1:c.325G>C	NP_001186700.1:p.Val109Leu
NM_002905.3:c.325G>C	NP_002896.2:p.Val109Leu
NR_037658.1:n.384G>C
NM_001199771.2:c.325G>C	NP_001186700.1:p.Val109Leu
NM_002905.5:c.325G>C MANE Select	NP_002896.2:p.Val109Leu
NM_001199771.3:c.325G>C	NP_001186700.1:p.Val109Leu