Canonical Allele Identifier: CA385200593

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115496G>T (hg19) ; chr12:g.55721712G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721712G>T , CM000674.2:g.55721712G>T	GRCh38
NC_000012.11:g.56115496G>T , CM000674.1:g.56115496G>T	GRCh37
NC_000012.10:g.54401763G>T	NCBI36
NG_008606.1:g.6346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.334G>T MANE Select	ENSP00000257895.6:p.Ala112Ser
ENST00000257895.9:c.334G>T	ENSP00000257895.5:p.Ala112Ser
ENST00000257899.3:c.349G>T
ENST00000547072.5:c.43G>T	ENSP00000449927.1:p.Ala15Ser
ENST00000547301.1:n.442G>T
ENST00000548082.1:c.334G>T	ENSP00000447128.1:p.Ala112Ser
ENST00000548123.1:c.300+218G>T
ENST00000548486.1:n.344G>T
ENST00000549424.1:c.*6G>T	ENSP00000447621.1:n.*6G>T
ENST00000550412.5:c.*6G>T	ENSP00000447650.1:n.*6G>T
ENST00000550608.1:n.473G>T
ENST00000551946.5:c.*137G>T	ENSP00000450201.1:n.*137G>T
ENST00000552930.5:c.43G>T	ENSP00000448014.1:p.Ala15Ser
ENST00000553160.1:n.406-483G>T
ENST00000553187.5:n.344G>T
NM_001199771.1:c.334G>T	NP_001186700.1:p.Ala112Ser
NM_002905.3:c.334G>T	NP_002896.2:p.Ala112Ser
NR_037658.1:n.393G>T
NM_001199771.2:c.334G>T	NP_001186700.1:p.Ala112Ser
NM_002905.5:c.334G>T MANE Select	NP_002896.2:p.Ala112Ser
NM_001199771.3:c.334G>T	NP_001186700.1:p.Ala112Ser