Canonical Allele Identifier: CA690144956

Gene: RDH5

Linked Data

• dbSNP Id: rs1477550666
• gnomAD v4: 12-55722070-C-T
• MyVariant Identifiers: chr12:g.56115854C>T (hg19) ; chr12:g.55722070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722070C>T , CM000674.2:g.55722070C>T	GRCh38
NC_000012.11:g.56115854C>T , CM000674.1:g.56115854C>T	GRCh37
NC_000012.10:g.54402121C>T	NCBI36
NG_008606.1:g.6704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+123C>T MANE Select	ENSP00000257895.6:n.569+123C>T
ENST00000257895.9:c.569+123C>T	ENSP00000257895.5:n.569+123C>T
ENST00000257899.3:c.591+116C>T
ENST00000547072.5:c.278+123C>T	ENSP00000449927.1:n.278+123C>T
ENST00000548082.1:c.569+123C>T	ENSP00000447128.1:n.569+123C>T
ENST00000548123.1:c.300+576C>T
ENST00000548486.1:n.702C>T
ENST00000550412.5:c.*364C>T	ENSP00000447650.1:n.*364C>T
ENST00000550608.1:n.831C>T
ENST00000551946.5:c.*495C>T	ENSP00000450201.1:n.*495C>T
ENST00000553160.1:n.406-125C>T
NM_001199771.1:c.569+123C>T	NP_001186700.1:n.569+123C>T
NM_002905.3:c.569+123C>T	NP_002896.2:n.569+123C>T
NR_037658.1:n.628+123C>T
NM_001199771.2:c.569+123C>T	NP_001186700.1:n.569+123C>T
NM_002905.5:c.569+123C>T MANE Select	NP_002896.2:n.569+123C>T
NM_001199771.3:c.569+123C>T	NP_001186700.1:n.569+123C>T