Canonical Allele Identifier: CA605247225

Gene: RDH5

Linked Data

• dbSNP Id: rs1340590929
• gnomAD v2: 12-56115798-AG-A
• gnomAD v3: 12-55722014-AG-A
• gnomAD v4: 12-55722014-AG-A
• MyVariant Identifiers: chr12:g.56115799del (hg19) ; chr12:g.55722015del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722016del , CM000674.2:g.55722016del	GRCh38
NC_000012.11:g.56115800del , CM000674.1:g.56115800del	GRCh37
NC_000012.10:g.54402067del	NCBI36
NG_008606.1:g.6650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+69del MANE Select	ENSP00000257895.6:n.569+69del
ENST00000257895.9:c.569+69del	ENSP00000257895.5:n.569+69del
ENST00000257899.3:c.591+62del
ENST00000547072.5:c.278+69del	ENSP00000449927.1:n.278+69del
ENST00000548082.1:c.569+69del	ENSP00000447128.1:n.569+69del
ENST00000548123.1:c.300+522del
ENST00000548486.1:n.648del
ENST00000550412.5:c.*310del	ENSP00000447650.1:n.*310del
ENST00000550608.1:n.777del
ENST00000551946.5:c.*441del	ENSP00000450201.1:n.*441del
ENST00000553160.1:n.406-179del
NM_001199771.1:c.569+69del	NP_001186700.1:n.569+69del
NM_002905.3:c.569+69del	NP_002896.2:n.569+69del
NR_037658.1:n.628+69del
NM_001199771.2:c.569+69del	NP_001186700.1:n.569+69del
NM_002905.5:c.569+69del MANE Select	NP_002896.2:n.569+69del
NM_001199771.3:c.569+69del	NP_001186700.1:n.569+69del