Canonical Allele Identifier: CA493404728

Gene: ROGDI

Linked Data

• dbSNP Id: rs2082673617
• gnomAD v3: 16-4797973-A-C
• gnomAD v4: 16-4797973-A-C
• MyVariant Identifiers: chr16:g.4847974A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797973A>C , CM000678.2:g.4797973A>C	GRCh38
NC_000016.9:g.4847974A>C , CM000678.1:g.4847974A>C	GRCh37
NC_000016.8:g.4787975A>C	NCBI36
NG_032174.1:g.9978T>G , LRG_455:g.9978T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.660T>G MANE Select	ENSP00000322832.6:p.Ala220=
ENST00000322048.11:c.660T>G	ENSP00000322832.5:p.Ala220=
ENST00000586153.1:c.306T>G	ENSP00000464699.1:p.Ala102=
ENST00000586336.5:n.759T>G
ENST00000586504.5:c.425+98T>G
ENST00000587377.5:c.673T>G	ENSP00000468343.1:p.Trp225Gly
ENST00000587711.5:c.345T>G	ENSP00000467459.1:p.Ala115=
ENST00000587843.5:c.*398T>G	ENSP00000465970.1:n.*398T>G
ENST00000588201.5:c.*651T>G	ENSP00000466529.1:n.*651T>G
ENST00000589543.5:n.617T>G
ENST00000591292.5:n.1989T>G
ENST00000591392.5:c.588T>G	ENSP00000467509.1:p.Ala196=
ENST00000592019.1:c.77-158T>G
NM_024589.2:c.660T>G , LRG_455t1:c.660T>G	NP_078865.1:p.Ala220=
NR_046480.1:n.984T>G
XM_006720947.2:c.660T>G	XP_006721010.1:p.Ala220=
XM_006720948.2:c.390T>G	XP_006721011.1:p.Ala130=
XM_006720947.4:c.660T>G	XP_006721010.1:p.Ala220=
XM_006720948.4:c.390T>G	XP_006721011.1:p.Ala130=
NM_024589.3:c.660T>G MANE Select	NP_078865.1:p.Ala220=
NR_046480.2:n.667T>G