Canonical Allele Identifier: CA480155414

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115591C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721807C>A , CM000674.2:g.55721807C>A	GRCh38
NC_000012.11:g.56115591C>A , CM000674.1:g.56115591C>A	GRCh37
NC_000012.10:g.54401858C>A	NCBI36
NG_008606.1:g.6441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.429C>A MANE Select	ENSP00000257895.6:p.Val143=
ENST00000257895.9:c.429C>A	ENSP00000257895.5:p.Val143=
ENST00000257899.3:c.444C>A
ENST00000547072.5:c.138C>A	ENSP00000449927.1:p.Val46=
ENST00000547301.1:n.537C>A
ENST00000548082.1:c.429C>A	ENSP00000447128.1:p.Val143=
ENST00000548123.1:c.300+313C>A
ENST00000548486.1:n.439C>A
ENST00000550412.5:c.*101C>A	ENSP00000447650.1:n.*101C>A
ENST00000550608.1:n.568C>A
ENST00000551946.5:c.*232C>A	ENSP00000450201.1:n.*232C>A
ENST00000552930.5:c.138C>A	ENSP00000448014.1:p.Val46=
ENST00000553160.1:n.406-388C>A
ENST00000553187.5:n.439C>A
NM_001199771.1:c.429C>A	NP_001186700.1:p.Val143=
NM_002905.3:c.429C>A	NP_002896.2:p.Val143=
NR_037658.1:n.488C>A
NM_001199771.2:c.429C>A	NP_001186700.1:p.Val143=
NM_002905.5:c.429C>A MANE Select	NP_002896.2:p.Val143=
NM_001199771.3:c.429C>A	NP_001186700.1:p.Val143=