Canonical Allele Identifier: CA605247223

Gene: RDH5

Linked Data

• dbSNP Id: rs1275366798
• gnomAD v2: 12-56115776-C-T
• MyVariant Identifiers: chr12:g.56115776C>T (hg19) ; chr12:g.55721992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721992C>T , CM000674.2:g.55721992C>T	GRCh38
NC_000012.11:g.56115776C>T , CM000674.1:g.56115776C>T	GRCh37
NC_000012.10:g.54402043C>T	NCBI36
NG_008606.1:g.6626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+45C>T MANE Select	ENSP00000257895.6:n.569+45C>T
ENST00000257895.9:c.569+45C>T	ENSP00000257895.5:n.569+45C>T
ENST00000257899.3:c.591+38C>T
ENST00000547072.5:c.278+45C>T	ENSP00000449927.1:n.278+45C>T
ENST00000548082.1:c.569+45C>T	ENSP00000447128.1:n.569+45C>T
ENST00000548123.1:c.300+498C>T
ENST00000548486.1:n.624C>T
ENST00000550412.5:c.*286C>T	ENSP00000447650.1:n.*286C>T
ENST00000550608.1:n.753C>T
ENST00000551946.5:c.*417C>T	ENSP00000450201.1:n.*417C>T
ENST00000553160.1:n.406-203C>T
ENST00000553187.5:n.624C>T
NM_001199771.1:c.569+45C>T	NP_001186700.1:n.569+45C>T
NM_002905.3:c.569+45C>T	NP_002896.2:n.569+45C>T
NR_037658.1:n.628+45C>T
NM_001199771.2:c.569+45C>T	NP_001186700.1:n.569+45C>T
NM_002905.5:c.569+45C>T MANE Select	NP_002896.2:n.569+45C>T
NM_001199771.3:c.569+45C>T	NP_001186700.1:n.569+45C>T