Canonical Allele Identifier: CA385201132

Gene: RDH5

Linked Data

• dbSNP Id: rs757300647
• gnomAD v2: 12-56115689-G-T
• gnomAD v4: 12-55721905-G-T
• MyVariant Identifiers: chr12:g.56115689G>T (hg19) ; chr12:g.55721905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721905G>T , CM000674.2:g.55721905G>T	GRCh38
NC_000012.11:g.56115689G>T , CM000674.1:g.56115689G>T	GRCh37
NC_000012.10:g.54401956G>T	NCBI36
NG_008606.1:g.6539G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.527G>T MANE Select	ENSP00000257895.6:p.Cys176Phe
ENST00000257895.9:c.527G>T	ENSP00000257895.5:p.Cys176Phe
ENST00000257899.3:c.542G>T
ENST00000547072.5:c.236G>T	ENSP00000449927.1:p.Cys79Phe
ENST00000548082.1:c.527G>T	ENSP00000447128.1:p.Cys176Phe
ENST00000548123.1:c.300+411G>T
ENST00000548486.1:n.537G>T
ENST00000550412.5:c.*199G>T	ENSP00000447650.1:n.*199G>T
ENST00000550608.1:n.666G>T
ENST00000551946.5:c.*330G>T	ENSP00000450201.1:n.*330G>T
ENST00000553160.1:n.406-290G>T
ENST00000553187.5:n.537G>T
NM_001199771.1:c.527G>T	NP_001186700.1:p.Cys176Phe
NM_002905.3:c.527G>T	NP_002896.2:p.Cys176Phe
NR_037658.1:n.586G>T
NM_001199771.2:c.527G>T	NP_001186700.1:p.Cys176Phe
NM_002905.5:c.527G>T MANE Select	NP_002896.2:p.Cys176Phe
NM_001199771.3:c.527G>T	NP_001186700.1:p.Cys176Phe