Canonical Allele Identifier: CA385201023

Gene: RDH5

Linked Data

• dbSNP Id: rs755168439
• gnomAD v4: 12-55721868-G-T
• MyVariant Identifiers: chr12:g.56115652G>T (hg19) ; chr12:g.55721868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721868G>T , CM000674.2:g.55721868G>T	GRCh38
NC_000012.11:g.56115652G>T , CM000674.1:g.56115652G>T	GRCh37
NC_000012.10:g.54401919G>T	NCBI36
NG_008606.1:g.6502G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.490G>T MANE Select	ENSP00000257895.6:p.Val164Phe
ENST00000257895.9:c.490G>T	ENSP00000257895.5:p.Val164Phe
ENST00000257899.3:c.505G>T
ENST00000547072.5:c.199G>T	ENSP00000449927.1:p.Val67Phe
ENST00000548082.1:c.490G>T	ENSP00000447128.1:p.Val164Phe
ENST00000548123.1:c.300+374G>T
ENST00000548486.1:n.500G>T
ENST00000550412.5:c.*162G>T	ENSP00000447650.1:n.*162G>T
ENST00000550608.1:n.629G>T
ENST00000551946.5:c.*293G>T	ENSP00000450201.1:n.*293G>T
ENST00000553160.1:n.406-327G>T
ENST00000553187.5:n.500G>T
NM_001199771.1:c.490G>T	NP_001186700.1:p.Val164Phe
NM_002905.3:c.490G>T	NP_002896.2:p.Val164Phe
NR_037658.1:n.549G>T
NM_001199771.2:c.490G>T	NP_001186700.1:p.Val164Phe
NM_002905.5:c.490G>T MANE Select	NP_002896.2:p.Val164Phe
NM_001199771.3:c.490G>T	NP_001186700.1:p.Val164Phe