Canonical Allele Identifier: CA6616924

Gene: RDH5

Linked Data

• ClinVar Variation Id: 281406
• ClinVar RCV Id: RCV000273993
• dbSNP Id: rs754803452
• ExAC: 12:56117839 T / C
• gnomAD v2: 12-56117839-T-C
• gnomAD v4: 12-55724055-T-C
• MyVariant Identifiers: chr12:g.56117839T>C (hg19) ; chr12:g.55724055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55724055T>C , CM000674.2:g.55724055T>C	GRCh38
NC_000012.11:g.56117839T>C , CM000674.1:g.56117839T>C	GRCh37
NC_000012.10:g.54404106T>C	NCBI36
NG_008347.1:g.10072A>G
NG_008606.1:g.8689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.733+6T>C MANE Select	ENSP00000257895.6:n.733+6T>C
ENST00000257895.9:c.733+6T>C	ENSP00000257895.5:n.733+6T>C
ENST00000257899.3:c.592-483T>C
ENST00000547072.5:c.442+6T>C	ENSP00000449927.1:n.442+6T>C
ENST00000548082.1:c.733+6T>C	ENSP00000447128.1:n.733+6T>C
ENST00000548123.1:c.464+6T>C
ENST00000550412.5:c.*2349T>C	ENSP00000447650.1:n.*2349T>C
ENST00000551444.1:n.683+6T>C
NM_001199771.1:c.733+6T>C	NP_001186700.1:n.733+6T>C
NM_002905.3:c.733+6T>C	NP_002896.2:n.733+6T>C
NR_037658.1:n.792+6T>C
NM_001199771.2:c.733+6T>C	NP_001186700.1:n.733+6T>C
NM_002905.5:c.733+6T>C MANE Select	NP_002896.2:n.733+6T>C
NM_001199771.3:c.733+6T>C	NP_001186700.1:n.733+6T>C