Canonical Allele Identifier: CA390131124

Gene: RDH11 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67685120C>T , CM000676.2:g.67685120C>T	GRCh38
NC_000014.8:g.68151837C>T , CM000676.1:g.68151837C>T	GRCh37
NC_000014.7:g.67221590C>T	NCBI36
NG_042282.1:g.15674G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016026.4:c.749G>A (RDH11) MANE Select	NP_057110.3:p.Trp250Ter
ENST00000381346.9:c.749G>A (RDH11) MANE Select	ENSP00000370750.4:p.Trp250Ter
NM_001252650.1:c.539G>A (RDH11)	NP_001239579.1:p.Trp180Ter
NM_001252650.2:c.539G>A (RDH11)	NP_001239579.1:p.Trp180Ter
NM_016026.3:c.749G>A (RDH11)	NP_057110.3:p.Trp250Ter
ENST00000381346.8:c.749G>A (RDH11)	ENSP00000370750.4:p.Trp250Ter
ENST00000428130.6:c.539G>A (RDH11)	ENSP00000416395.2:p.Trp180Ter
ENST00000553306.5:c.241G>A
ENST00000553384.5:c.710G>A (RDH11)	ENSP00000452079.1:p.Trp237Ter
ENST00000553578.5:n.2899G>A (RDH11)
ENST00000553582.5:n.275G>A
ENST00000553816.5:n.553G>A (RDH11)
ENST00000554035.5:c.407G>A (RDH11)	ENSP00000450802.1:p.Trp136Ter
ENST00000554493.1:n.141G>A
ENST00000554731.1:c.*183G>A (RDH11)	ENSP00000451280.1:n.*183G>A
ENST00000557273.5:c.488G>A (RDH11)	ENSP00000450651.1:p.Trp163Ter
ENST00000557564.1:c.156+5092G>A
XM_017020925.2:c.1313-50075C>T (GPHN)	XP_016876414.1:n.1313-50075C>T