Canonical Allele Identifier: CA6616870

Gene: RDH5

Linked Data

• dbSNP Id: rs763355484
• ExAC: 12:56115785 CGTG / C
• gnomAD v2: 12-56115785-CGTG-C
• gnomAD v4: 12-55722001-CGTG-C
• MyVariant Identifiers: chr12:g.56115786_56115788del (hg19) ; chr12:g.55722002_55722004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722003_55722005del , CM000674.2:g.55722003_55722005del	GRCh38
NC_000012.11:g.56115787_56115789del , CM000674.1:g.56115787_56115789del	GRCh37
NC_000012.10:g.54402054_54402056del	NCBI36
NG_008606.1:g.6637_6639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+56_569+58del MANE Select	ENSP00000257895.6:n.569+56_569+58del
ENST00000257895.9:c.569+56_569+58del	ENSP00000257895.5:n.569+56_569+58del
ENST00000257899.3:c.591+49_591+51del
ENST00000547072.5:c.278+56_278+58del	ENSP00000449927.1:n.278+56_278+58del
ENST00000548082.1:c.569+56_569+58del	ENSP00000447128.1:n.569+56_569+58del
ENST00000548123.1:c.300+509_300+511del
ENST00000548486.1:n.635_637del
ENST00000550412.5:c.*297_*299del	ENSP00000447650.1:n.*297_*299del
ENST00000550608.1:n.764_766del
ENST00000551946.5:c.*428_*430del	ENSP00000450201.1:n.*428_*430del
ENST00000553160.1:n.406-192_406-190del
NM_001199771.1:c.569+56_569+58del	NP_001186700.1:n.569+56_569+58del
NM_002905.3:c.569+56_569+58del	NP_002896.2:n.569+56_569+58del
NR_037658.1:n.628+56_628+58del
NM_001199771.2:c.569+56_569+58del	NP_001186700.1:n.569+56_569+58del
NM_002905.5:c.569+56_569+58del MANE Select	NP_002896.2:n.569+56_569+58del
NM_001199771.3:c.569+56_569+58del	NP_001186700.1:n.569+56_569+58del