Canonical Allele Identifier: CA6616865

Gene: RDH5

Linked Data

• dbSNP Id: rs535559523
• ExAC: 12:56115746 G / C
• gnomAD v2: 12-56115746-G-C
• gnomAD v3: 12-55721962-G-C
• gnomAD v4: 12-55721962-G-C
• MyVariant Identifiers: chr12:g.56115746G>C (hg19) ; chr12:g.55721962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721962G>C , CM000674.2:g.55721962G>C	GRCh38
NC_000012.11:g.56115746G>C , CM000674.1:g.56115746G>C	GRCh37
NC_000012.10:g.54402013G>C	NCBI36
NG_008606.1:g.6596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+15G>C MANE Select	ENSP00000257895.6:n.569+15G>C
ENST00000257895.9:c.569+15G>C	ENSP00000257895.5:n.569+15G>C
ENST00000257899.3:c.591+8G>C
ENST00000547072.5:c.278+15G>C	ENSP00000449927.1:n.278+15G>C
ENST00000548082.1:c.569+15G>C	ENSP00000447128.1:n.569+15G>C
ENST00000548123.1:c.300+468G>C
ENST00000548486.1:n.594G>C
ENST00000550412.5:c.*256G>C	ENSP00000447650.1:n.*256G>C
ENST00000550608.1:n.723G>C
ENST00000551946.5:c.*387G>C	ENSP00000450201.1:n.*387G>C
ENST00000553160.1:n.406-233G>C
ENST00000553187.5:n.594G>C
NM_001199771.1:c.569+15G>C	NP_001186700.1:n.569+15G>C
NM_002905.3:c.569+15G>C	NP_002896.2:n.569+15G>C
NR_037658.1:n.628+15G>C
NM_001199771.2:c.569+15G>C	NP_001186700.1:n.569+15G>C
NM_002905.5:c.569+15G>C MANE Select	NP_002896.2:n.569+15G>C
NM_001199771.3:c.569+15G>C	NP_001186700.1:n.569+15G>C