Canonical Allele Identifier: CA947930997

Gene: RDH5

Linked Data

• dbSNP Id: rs1876925738
• gnomAD v3: 12-55721655-A-ACAT
• gnomAD v4: 12-55721655-A-ACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721656_55721657insATC , CM000674.2:g.55721656_55721657insATC	GRCh38
NC_000012.11:g.56115440_56115441insATC , CM000674.1:g.56115440_56115441insATC	GRCh37
NC_000012.10:g.54401707_54401708insATC	NCBI36
NG_008606.1:g.6290_6291insATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-33_311-32insATC MANE Select	ENSP00000257895.6:n.311-33_311-32insATC
ENST00000257895.9:c.311-33_311-32insATC	ENSP00000257895.5:n.311-33_311-32insATC
ENST00000257899.3:c.326-33_326-32insATC
ENST00000547072.5:c.20-33_20-32insATC	ENSP00000449927.1:n.20-33_20-32insATC
ENST00000547301.1:n.386_387insATC
ENST00000548082.1:c.311-33_311-32insATC	ENSP00000447128.1:n.311-33_311-32insATC
ENST00000548123.1:c.300+162_300+163insATC
ENST00000548486.1:n.321-33_321-32insATC
ENST00000549424.1:c.118-33_118-32insATC	ENSP00000447621.1:n.118-33_118-32insATC
ENST00000550412.5:c.352-33_352-32insATC	ENSP00000447650.1:n.352-33_352-32insATC
ENST00000550608.1:n.450-33_450-32insATC
ENST00000551946.5:c.*114-33_*114-32insATC	ENSP00000450201.1:n.*114-33_*114-32insATC
ENST00000552930.5:c.20-33_20-32insATC	ENSP00000448014.1:n.20-33_20-32insATC
ENST00000553160.1:n.406-539_406-538insATC
ENST00000553187.5:n.321-33_321-32insATC
NM_001199771.1:c.311-33_311-32insATC	NP_001186700.1:n.311-33_311-32insATC
NM_002905.3:c.311-33_311-32insATC	NP_002896.2:n.311-33_311-32insATC
NR_037658.1:n.370-33_370-32insATC
NM_001199771.2:c.311-33_311-32insATC	NP_001186700.1:n.311-33_311-32insATC
NM_002905.5:c.311-33_311-32insATC MANE Select	NP_002896.2:n.311-33_311-32insATC
NM_001199771.3:c.311-33_311-32insATC	NP_001186700.1:n.311-33_311-32insATC