Canonical Allele Identifier: CA277135813

Gene: ROGDI

Linked Data

• dbSNP Id: rs999063304
• gnomAD v4: 16-4797939-A-G
• MyVariant Identifiers: chr16:g.4847940A>G (hg19) ; chr16:g.4797939A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797939A>G , CM000678.2:g.4797939A>G	GRCh38
NC_000016.9:g.4847940A>G , CM000678.1:g.4847940A>G	GRCh37
NC_000016.8:g.4787941A>G	NCBI36
NG_032174.1:g.10012T>C , LRG_455:g.10012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.694T>C MANE Select	ENSP00000322832.6:p.Phe232Leu
ENST00000322048.11:c.694T>C	ENSP00000322832.5:p.Phe232Leu
ENST00000586153.1:c.340T>C	ENSP00000464699.1:p.Phe114Leu
ENST00000586336.5:n.793T>C
ENST00000586504.5:c.426-99T>C
ENST00000587377.5:c.*14T>C	ENSP00000468343.1:n.*14T>C
ENST00000587711.5:c.379T>C	ENSP00000467459.1:p.Phe127Leu
ENST00000587843.5:c.*432T>C	ENSP00000465970.1:n.*432T>C
ENST00000588201.5:c.*685T>C	ENSP00000466529.1:n.*685T>C
ENST00000589543.5:n.651T>C
ENST00000591292.5:n.2023T>C
ENST00000591392.5:c.622T>C	ENSP00000467509.1:p.Phe208Leu
ENST00000592019.1:c.77-124T>C
NM_024589.2:c.694T>C , LRG_455t1:c.694T>C	NP_078865.1:p.Phe232Leu
NR_046480.1:n.1018T>C
XM_006720947.2:c.694T>C	XP_006721010.1:p.Leu232=
XM_006720948.2:c.424T>C	XP_006721011.1:p.Leu142=
XM_006720947.4:c.694T>C	XP_006721010.1:p.Leu232=
XM_006720948.4:c.424T>C	XP_006721011.1:p.Leu142=
NM_024589.3:c.694T>C MANE Select	NP_078865.1:p.Phe232Leu
NR_046480.2:n.701T>C