Canonical Allele Identifier: CA480155510

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115606G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721822G>T , CM000674.2:g.55721822G>T	GRCh38
NC_000012.11:g.56115606G>T , CM000674.1:g.56115606G>T	GRCh37
NC_000012.10:g.54401873G>T	NCBI36
NG_008606.1:g.6456G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.444G>T MANE Select	ENSP00000257895.6:p.Leu148=
ENST00000257895.9:c.444G>T	ENSP00000257895.5:p.Leu148=
ENST00000257899.3:c.459G>T
ENST00000547072.5:c.153G>T	ENSP00000449927.1:p.Leu51=
ENST00000547301.1:n.552G>T
ENST00000548082.1:c.444G>T	ENSP00000447128.1:p.Leu148=
ENST00000548123.1:c.300+328G>T
ENST00000548486.1:n.454G>T
ENST00000550412.5:c.*116G>T	ENSP00000447650.1:n.*116G>T
ENST00000550608.1:n.583G>T
ENST00000551946.5:c.*247G>T	ENSP00000450201.1:n.*247G>T
ENST00000552930.5:c.153G>T	ENSP00000448014.1:p.Leu51=
ENST00000553160.1:n.406-373G>T
ENST00000553187.5:n.454G>T
NM_001199771.1:c.444G>T	NP_001186700.1:p.Leu148=
NM_002905.3:c.444G>T	NP_002896.2:p.Leu148=
NR_037658.1:n.503G>T
NM_001199771.2:c.444G>T	NP_001186700.1:p.Leu148=
NM_002905.5:c.444G>T MANE Select	NP_002896.2:p.Leu148=
NM_001199771.3:c.444G>T	NP_001186700.1:p.Leu148=