Canonical Allele Identifier: CA385200693

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115535A>T (hg19) ; chr12:g.55721751A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721751A>T , CM000674.2:g.55721751A>T	GRCh38
NC_000012.11:g.56115535A>T , CM000674.1:g.56115535A>T	GRCh37
NC_000012.10:g.54401802A>T	NCBI36
NG_008606.1:g.6385A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.373A>T MANE Select	ENSP00000257895.6:p.Thr125Ser
ENST00000257895.9:c.373A>T	ENSP00000257895.5:p.Thr125Ser
ENST00000257899.3:c.388A>T
ENST00000547072.5:c.82A>T	ENSP00000449927.1:p.Thr28Ser
ENST00000547301.1:n.481A>T
ENST00000548082.1:c.373A>T	ENSP00000447128.1:p.Thr125Ser
ENST00000548123.1:c.300+257A>T
ENST00000548486.1:n.383A>T
ENST00000549424.1:c.*45A>T	ENSP00000447621.1:n.*45A>T
ENST00000550412.5:c.*45A>T	ENSP00000447650.1:n.*45A>T
ENST00000550608.1:n.512A>T
ENST00000551946.5:c.*176A>T	ENSP00000450201.1:n.*176A>T
ENST00000552930.5:c.82A>T	ENSP00000448014.1:p.Thr28Ser
ENST00000553160.1:n.406-444A>T
ENST00000553187.5:n.383A>T
NM_001199771.1:c.373A>T	NP_001186700.1:p.Thr125Ser
NM_002905.3:c.373A>T	NP_002896.2:p.Thr125Ser
NR_037658.1:n.432A>T
NM_001199771.2:c.373A>T	NP_001186700.1:p.Thr125Ser
NM_002905.5:c.373A>T MANE Select	NP_002896.2:p.Thr125Ser
NM_001199771.3:c.373A>T	NP_001186700.1:p.Thr125Ser