Canonical Allele Identifier: CA385200558

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115487G>T (hg19) ; chr12:g.55721703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721703G>T , CM000674.2:g.55721703G>T	GRCh38
NC_000012.11:g.56115487G>T , CM000674.1:g.56115487G>T	GRCh37
NC_000012.10:g.54401754G>T	NCBI36
NG_008606.1:g.6337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.325G>T MANE Select	ENSP00000257895.6:p.Val109Leu
ENST00000257895.9:c.325G>T	ENSP00000257895.5:p.Val109Leu
ENST00000257899.3:c.340G>T
ENST00000547072.5:c.34G>T	ENSP00000449927.1:p.Val12Leu
ENST00000547301.1:n.433G>T
ENST00000548082.1:c.325G>T	ENSP00000447128.1:p.Val109Leu
ENST00000548123.1:c.300+209G>T
ENST00000548486.1:n.335G>T
ENST00000549424.1:c.132G>T	ENSP00000447621.1:p.Trp44Cys
ENST00000550412.5:c.366G>T	ENSP00000447650.1:p.Trp122Cys
ENST00000550608.1:n.464G>T
ENST00000551946.5:c.*128G>T	ENSP00000450201.1:n.*128G>T
ENST00000552930.5:c.34G>T	ENSP00000448014.1:p.Val12Leu
ENST00000553160.1:n.406-492G>T
ENST00000553187.5:n.335G>T
NM_001199771.1:c.325G>T	NP_001186700.1:p.Val109Leu
NM_002905.3:c.325G>T	NP_002896.2:p.Val109Leu
NR_037658.1:n.384G>T
NM_001199771.2:c.325G>T	NP_001186700.1:p.Val109Leu
NM_002905.5:c.325G>T MANE Select	NP_002896.2:p.Val109Leu
NM_001199771.3:c.325G>T	NP_001186700.1:p.Val109Leu