Canonical Allele Identifier: CA605247221

Gene: RDH5

Linked Data

• dbSNP Id: rs1325871422
• gnomAD v2: 12-56115763-T-C
• gnomAD v3: 12-55721979-T-C
• gnomAD v4: 12-55721979-T-C
• MyVariant Identifiers: chr12:g.56115763T>C (hg19) ; chr12:g.55721979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721979T>C , CM000674.2:g.55721979T>C	GRCh38
NC_000012.11:g.56115763T>C , CM000674.1:g.56115763T>C	GRCh37
NC_000012.10:g.54402030T>C	NCBI36
NG_008606.1:g.6613T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+32T>C MANE Select	ENSP00000257895.6:n.569+32T>C
ENST00000257895.9:c.569+32T>C	ENSP00000257895.5:n.569+32T>C
ENST00000257899.3:c.591+25T>C
ENST00000547072.5:c.278+32T>C	ENSP00000449927.1:n.278+32T>C
ENST00000548082.1:c.569+32T>C	ENSP00000447128.1:n.569+32T>C
ENST00000548123.1:c.300+485T>C
ENST00000548486.1:n.611T>C
ENST00000550412.5:c.*273T>C	ENSP00000447650.1:n.*273T>C
ENST00000550608.1:n.740T>C
ENST00000551946.5:c.*404T>C	ENSP00000450201.1:n.*404T>C
ENST00000553160.1:n.406-216T>C
ENST00000553187.5:n.611T>C
NM_001199771.1:c.569+32T>C	NP_001186700.1:n.569+32T>C
NM_002905.3:c.569+32T>C	NP_002896.2:n.569+32T>C
NR_037658.1:n.628+32T>C
NM_001199771.2:c.569+32T>C	NP_001186700.1:n.569+32T>C
NM_002905.5:c.569+32T>C MANE Select	NP_002896.2:n.569+32T>C
NM_001199771.3:c.569+32T>C	NP_001186700.1:n.569+32T>C