Canonical Allele Identifier: CA237593838

Gene: RDH5

Linked Data

• dbSNP Id: rs114820764
• gnomAD v2: 12-56115852-G-C
• gnomAD v3: 12-55722068-G-C
• gnomAD v4: 12-55722068-G-C
• MyVariant Identifiers: chr12:g.56115852G>C (hg19) ; chr12:g.55722068G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722068G>C , CM000674.2:g.55722068G>C	GRCh38
NC_000012.11:g.56115852G>C , CM000674.1:g.56115852G>C	GRCh37
NC_000012.10:g.54402119G>C	NCBI36
NG_008606.1:g.6702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+121G>C MANE Select	ENSP00000257895.6:n.569+121G>C
ENST00000257895.9:c.569+121G>C	ENSP00000257895.5:n.569+121G>C
ENST00000257899.3:c.591+114G>C
ENST00000547072.5:c.278+121G>C	ENSP00000449927.1:n.278+121G>C
ENST00000548082.1:c.569+121G>C	ENSP00000447128.1:n.569+121G>C
ENST00000548123.1:c.300+574G>C
ENST00000548486.1:n.700G>C
ENST00000550412.5:c.*362G>C	ENSP00000447650.1:n.*362G>C
ENST00000550608.1:n.829G>C
ENST00000551946.5:c.*493G>C	ENSP00000450201.1:n.*493G>C
ENST00000553160.1:n.406-127G>C
NM_001199771.1:c.569+121G>C	NP_001186700.1:n.569+121G>C
NM_002905.3:c.569+121G>C	NP_002896.2:n.569+121G>C
NR_037658.1:n.628+121G>C
NM_001199771.2:c.569+121G>C	NP_001186700.1:n.569+121G>C
NM_002905.5:c.569+121G>C MANE Select	NP_002896.2:n.569+121G>C
NM_001199771.3:c.569+121G>C	NP_001186700.1:n.569+121G>C