Canonical Allele Identifier: CA2619204943

Gene: RDH5

Linked Data

• gnomAD v4: 12-55722036-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722036T>C , CM000674.2:g.55722036T>C	GRCh38
NC_000012.11:g.56115820T>C , CM000674.1:g.56115820T>C	GRCh37
NC_000012.10:g.54402087T>C	NCBI36
NG_008606.1:g.6670T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+89T>C MANE Select	ENSP00000257895.6:n.569+89T>C
ENST00000257895.9:c.569+89T>C	ENSP00000257895.5:n.569+89T>C
ENST00000257899.3:c.591+82T>C
ENST00000547072.5:c.278+89T>C	ENSP00000449927.1:n.278+89T>C
ENST00000548082.1:c.569+89T>C	ENSP00000447128.1:n.569+89T>C
ENST00000548123.1:c.300+542T>C
ENST00000548486.1:n.668T>C
ENST00000550412.5:c.*330T>C	ENSP00000447650.1:n.*330T>C
ENST00000550608.1:n.797T>C
ENST00000551946.5:c.*461T>C	ENSP00000450201.1:n.*461T>C
ENST00000553160.1:n.406-159T>C
NM_001199771.1:c.569+89T>C	NP_001186700.1:n.569+89T>C
NM_002905.3:c.569+89T>C	NP_002896.2:n.569+89T>C
NR_037658.1:n.628+89T>C
NM_001199771.2:c.569+89T>C	NP_001186700.1:n.569+89T>C
NM_002905.5:c.569+89T>C MANE Select	NP_002896.2:n.569+89T>C
NM_001199771.3:c.569+89T>C	NP_001186700.1:n.569+89T>C