Canonical Allele Identifier: CA6616791

Gene: RDH5

Linked Data

• dbSNP Id: rs765942996
• ExAC: 12:56115297 C / T
• gnomAD v2: 12-56115297-C-T
• gnomAD v4: 12-55721513-C-T
• MyVariant Identifiers: chr12:g.56115297C>T (hg19) ; chr12:g.55721513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721513C>T , CM000674.2:g.55721513C>T	GRCh38
NC_000012.11:g.56115297C>T , CM000674.1:g.56115297C>T	GRCh37
NC_000012.10:g.54401564C>T	NCBI36
NG_008606.1:g.6147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+19C>T MANE Select	ENSP00000257895.6:n.310+19C>T
ENST00000257895.9:c.310+19C>T	ENSP00000257895.5:n.310+19C>T
ENST00000257899.3:c.326-176C>T
ENST00000547072.5:c.19+19C>T	ENSP00000449927.1:n.19+19C>T
ENST00000547301.1:n.243C>T
ENST00000548082.1:c.310+19C>T	ENSP00000447128.1:n.310+19C>T
ENST00000548123.1:c.300+19C>T
ENST00000548486.1:n.320+19C>T
ENST00000549424.1:c.118-176C>T	ENSP00000447621.1:n.118-176C>T
ENST00000550412.5:c.352-176C>T	ENSP00000447650.1:n.352-176C>T
ENST00000550608.1:n.449+19C>T
ENST00000551946.5:c.*114-176C>T	ENSP00000450201.1:n.*114-176C>T
ENST00000552930.5:c.19+19C>T	ENSP00000448014.1:n.19+19C>T
ENST00000553160.1:n.406-682C>T
ENST00000553187.5:n.320+19C>T
NM_001199771.1:c.310+19C>T	NP_001186700.1:n.310+19C>T
NM_002905.3:c.310+19C>T	NP_002896.2:n.310+19C>T
NR_037658.1:n.370-176C>T
NM_001199771.2:c.310+19C>T	NP_001186700.1:n.310+19C>T
NM_002905.5:c.310+19C>T MANE Select	NP_002896.2:n.310+19C>T
NM_001199771.3:c.310+19C>T	NP_001186700.1:n.310+19C>T