Canonical Allele Identifier: CA690144098

Gene: RDH5

Linked Data

• dbSNP Id: rs1301645570
• gnomAD v4: 12-55721564-C-G
• MyVariant Identifiers: chr12:g.56115348C>G (hg19) ; chr12:g.55721564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721564C>G , CM000674.2:g.55721564C>G	GRCh38
NC_000012.11:g.56115348C>G , CM000674.1:g.56115348C>G	GRCh37
NC_000012.10:g.54401615C>G	NCBI36
NG_008606.1:g.6198C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+70C>G MANE Select	ENSP00000257895.6:n.310+70C>G
ENST00000257895.9:c.310+70C>G	ENSP00000257895.5:n.310+70C>G
ENST00000257899.3:c.326-125C>G
ENST00000547072.5:c.19+70C>G	ENSP00000449927.1:n.19+70C>G
ENST00000547301.1:n.294C>G
ENST00000548082.1:c.310+70C>G	ENSP00000447128.1:n.310+70C>G
ENST00000548123.1:c.300+70C>G
ENST00000548486.1:n.320+70C>G
ENST00000549424.1:c.118-125C>G	ENSP00000447621.1:n.118-125C>G
ENST00000550412.5:c.352-125C>G	ENSP00000447650.1:n.352-125C>G
ENST00000550608.1:n.449+70C>G
ENST00000551946.5:c.*114-125C>G	ENSP00000450201.1:n.*114-125C>G
ENST00000552930.5:c.19+70C>G	ENSP00000448014.1:n.19+70C>G
ENST00000553160.1:n.406-631C>G
ENST00000553187.5:n.320+70C>G
NM_001199771.1:c.310+70C>G	NP_001186700.1:n.310+70C>G
NM_002905.3:c.310+70C>G	NP_002896.2:n.310+70C>G
NR_037658.1:n.370-125C>G
NM_001199771.2:c.310+70C>G	NP_001186700.1:n.310+70C>G
NM_002905.5:c.310+70C>G MANE Select	NP_002896.2:n.310+70C>G
NM_001199771.3:c.310+70C>G	NP_001186700.1:n.310+70C>G