Canonical Allele Identifier: CA6616850

Gene: RDH5

Linked Data

• dbSNP Id: rs761056668
• ExAC: 12:56115647 C / T
• gnomAD v2: 12-56115647-C-T
• gnomAD v4: 12-55721863-C-T
• MyVariant Identifiers: chr12:g.56115647C>T (hg19) ; chr12:g.55721863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721863C>T , CM000674.2:g.55721863C>T	GRCh38
NC_000012.11:g.56115647C>T , CM000674.1:g.56115647C>T	GRCh37
NC_000012.10:g.54401914C>T	NCBI36
NG_008606.1:g.6497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.485C>T MANE Select	ENSP00000257895.6:p.Thr162Ile
ENST00000257895.9:c.485C>T	ENSP00000257895.5:p.Thr162Ile
ENST00000257899.3:c.500C>T
ENST00000547072.5:c.194C>T	ENSP00000449927.1:p.Thr65Ile
ENST00000548082.1:c.485C>T	ENSP00000447128.1:p.Thr162Ile
ENST00000548123.1:c.300+369C>T
ENST00000548486.1:n.495C>T
ENST00000550412.5:c.*157C>T	ENSP00000447650.1:n.*157C>T
ENST00000550608.1:n.624C>T
ENST00000551946.5:c.*288C>T	ENSP00000450201.1:n.*288C>T
ENST00000553160.1:n.406-332C>T
ENST00000553187.5:n.495C>T
NM_001199771.1:c.485C>T	NP_001186700.1:p.Thr162Ile
NM_002905.3:c.485C>T	NP_002896.2:p.Thr162Ile
NR_037658.1:n.544C>T
NM_001199771.2:c.485C>T	NP_001186700.1:p.Thr162Ile
NM_002905.5:c.485C>T MANE Select	NP_002896.2:p.Thr162Ile
NM_001199771.3:c.485C>T	NP_001186700.1:p.Thr162Ile