Canonical Allele Identifier: CA390136882

Gene: RDH11 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67692588G>C , CM000676.2:g.67692588G>C	GRCh38
NC_000014.8:g.68159305G>C , CM000676.1:g.68159305G>C	GRCh37
NC_000014.7:g.67229058G>C	NCBI36
NG_042282.1:g.8206C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016026.4:c.199C>G (RDH11) MANE Select	NP_057110.3:p.Arg67Gly
ENST00000381346.9:c.199C>G (RDH11) MANE Select	ENSP00000370750.4:p.Arg67Gly
NM_001252650.1:c.199C>G (RDH11)	NP_001239579.1:p.Arg67Gly
NM_001252650.2:c.199C>G (RDH11)	NP_001239579.1:p.Arg67Gly
NM_016026.3:c.199C>G (RDH11)	NP_057110.3:p.Arg67Gly
ENST00000381346.8:c.199C>G (RDH11)	ENSP00000370750.4:p.Arg67Gly
ENST00000428130.6:c.199C>G (RDH11)	ENSP00000416395.2:p.Arg67Gly
ENST00000553384.5:c.160C>G (RDH11)	ENSP00000452079.1:p.Arg54Gly
ENST00000553578.5:n.264C>G (RDH11)
ENST00000553816.5:n.213C>G (RDH11)
ENST00000554731.1:c.75-2167C>G (RDH11)	ENSP00000451280.1:n.75-2167C>G
ENST00000556692.1:n.629C>G (RDH11)
ENST00000557273.5:c.193+346C>G (RDH11)	ENSP00000450651.1:n.193+346C>G
ENST00000557331.1:c.80C>G (RDH11)	ENSP00000452108.1:p.Ser27Trp
ENST00000557726.1:c.193+346C>G (RDH11)	ENSP00000450435.1:n.193+346C>G
XM_017020925.2:c.1313-42607G>C (GPHN)	XP_016876414.1:n.1313-42607G>C