Canonical Allele Identifier: CA385201087

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721890-A-G
• MyVariant Identifiers: chr12:g.56115674A>G (hg19) ; chr12:g.55721890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721890A>G , CM000674.2:g.55721890A>G	GRCh38
NC_000012.11:g.56115674A>G , CM000674.1:g.56115674A>G	GRCh37
NC_000012.10:g.54401941A>G	NCBI36
NG_008606.1:g.6524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.512A>G MANE Select	ENSP00000257895.6:p.Asn171Ser
ENST00000257895.9:c.512A>G	ENSP00000257895.5:p.Asn171Ser
ENST00000257899.3:c.527A>G
ENST00000547072.5:c.221A>G	ENSP00000449927.1:p.Asn74Ser
ENST00000548082.1:c.512A>G	ENSP00000447128.1:p.Asn171Ser
ENST00000548123.1:c.300+396A>G
ENST00000548486.1:n.522A>G
ENST00000550412.5:c.*184A>G	ENSP00000447650.1:n.*184A>G
ENST00000550608.1:n.651A>G
ENST00000551946.5:c.*315A>G	ENSP00000450201.1:n.*315A>G
ENST00000553160.1:n.406-305A>G
ENST00000553187.5:n.522A>G
NM_001199771.1:c.512A>G	NP_001186700.1:p.Asn171Ser
NM_002905.3:c.512A>G	NP_002896.2:p.Asn171Ser
NR_037658.1:n.571A>G
NM_001199771.2:c.512A>G	NP_001186700.1:p.Asn171Ser
NM_002905.5:c.512A>G MANE Select	NP_002896.2:p.Asn171Ser
NM_001199771.3:c.512A>G	NP_001186700.1:p.Asn171Ser