Canonical Allele Identifier: CA385201148

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115694T>G (hg19) ; chr12:g.55721910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721910T>G , CM000674.2:g.55721910T>G	GRCh38
NC_000012.11:g.56115694T>G , CM000674.1:g.56115694T>G	GRCh37
NC_000012.10:g.54401961T>G	NCBI36
NG_008606.1:g.6544T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.532T>G MANE Select	ENSP00000257895.6:p.Ser178Ala
ENST00000257895.9:c.532T>G	ENSP00000257895.5:p.Ser178Ala
ENST00000257899.3:c.547T>G
ENST00000547072.5:c.241T>G	ENSP00000449927.1:p.Ser81Ala
ENST00000548082.1:c.532T>G	ENSP00000447128.1:p.Ser178Ala
ENST00000548123.1:c.300+416T>G
ENST00000548486.1:n.542T>G
ENST00000550412.5:c.*204T>G	ENSP00000447650.1:n.*204T>G
ENST00000550608.1:n.671T>G
ENST00000551946.5:c.*335T>G	ENSP00000450201.1:n.*335T>G
ENST00000553160.1:n.406-285T>G
ENST00000553187.5:n.542T>G
NM_001199771.1:c.532T>G	NP_001186700.1:p.Ser178Ala
NM_002905.3:c.532T>G	NP_002896.2:p.Ser178Ala
NR_037658.1:n.591T>G
NM_001199771.2:c.532T>G	NP_001186700.1:p.Ser178Ala
NM_002905.5:c.532T>G MANE Select	NP_002896.2:p.Ser178Ala
NM_001199771.3:c.532T>G	NP_001186700.1:p.Ser178Ala