Canonical Allele Identifier: CA605247224

Gene: RDH5

Linked Data

• dbSNP Id: rs1316688946
• gnomAD v2: 12-56115786-G-A
• gnomAD v3: 12-55722002-G-A
• gnomAD v4: 12-55722002-G-A
• MyVariant Identifiers: chr12:g.56115786G>A (hg19) ; chr12:g.55722002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722002G>A , CM000674.2:g.55722002G>A	GRCh38
NC_000012.11:g.56115786G>A , CM000674.1:g.56115786G>A	GRCh37
NC_000012.10:g.54402053G>A	NCBI36
NG_008606.1:g.6636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+55G>A MANE Select	ENSP00000257895.6:n.569+55G>A
ENST00000257895.9:c.569+55G>A	ENSP00000257895.5:n.569+55G>A
ENST00000257899.3:c.591+48G>A
ENST00000547072.5:c.278+55G>A	ENSP00000449927.1:n.278+55G>A
ENST00000548082.1:c.569+55G>A	ENSP00000447128.1:n.569+55G>A
ENST00000548123.1:c.300+508G>A
ENST00000548486.1:n.634G>A
ENST00000550412.5:c.*296G>A	ENSP00000447650.1:n.*296G>A
ENST00000550608.1:n.763G>A
ENST00000551946.5:c.*427G>A	ENSP00000450201.1:n.*427G>A
ENST00000553160.1:n.406-193G>A
NM_001199771.1:c.569+55G>A	NP_001186700.1:n.569+55G>A
NM_002905.3:c.569+55G>A	NP_002896.2:n.569+55G>A
NR_037658.1:n.628+55G>A
NM_001199771.2:c.569+55G>A	NP_001186700.1:n.569+55G>A
NM_002905.5:c.569+55G>A MANE Select	NP_002896.2:n.569+55G>A
NM_001199771.3:c.569+55G>A	NP_001186700.1:n.569+55G>A