Canonical Allele Identifier: CA2143988152

Gene: RDH11 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67692465G= , CM000676.2:g.67692465G=	GRCh38
NC_000014.8:g.68159182G= , CM000676.1:g.68159182G=	GRCh37
NC_000014.7:g.67228935G=	NCBI36
NG_042282.1:g.8329C=

Transcript Alleles

HGVS	Amino-acid Change
NM_016026.4:c.322C= (RDH11) MANE Select	NP_057110.3:p.Arg108=
ENST00000381346.9:c.322C= (RDH11) MANE Select	ENSP00000370750.4:p.Arg108=
NM_001252650.1:c.322C= (RDH11)	NP_001239579.1:p.Arg108=
NM_001252650.2:c.322C= (RDH11)	NP_001239579.1:p.Arg108=
NM_016026.3:c.322C= (RDH11)	NP_057110.3:p.Arg108=
ENST00000381346.8:c.322C= (RDH11)	ENSP00000370750.4:p.Arg108=
ENST00000428130.6:c.322C= (RDH11)	ENSP00000416395.2:p.Arg108=
ENST00000553384.5:c.283C= (RDH11)	ENSP00000452079.1:p.Arg95=
ENST00000553578.5:n.387C= (RDH11)
ENST00000553816.5:n.336C= (RDH11)
ENST00000554035.5:c.19C= (RDH11)	ENSP00000450802.1:p.Arg7=
ENST00000554731.1:c.75-2044C= (RDH11)	ENSP00000451280.1:n.75-2044C=
ENST00000556692.1:n.752C= (RDH11)
ENST00000557273.5:c.193+469C= (RDH11)	ENSP00000450651.1:n.193+469C=
ENST00000557331.1:c.*14C= (RDH11)	ENSP00000452108.1:n.*14C=
ENST00000557726.1:c.193+469C= (RDH11)	ENSP00000450435.1:n.193+469C=
XM_017020925.2:c.1313-42730G= (GPHN)	XP_016876414.1:n.1313-42730G=