Canonical Allele Identifier: CA620513167

Gene: ROGDI

Linked Data

• dbSNP Id: rs1275424392
• gnomAD v2: 16-4848430-G-A
• gnomAD v4: 16-4798429-G-A
• MyVariant Identifiers: chr16:g.4848430G>A (hg19) ; chr16:g.4798429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798429G>A , CM000678.2:g.4798429G>A	GRCh38
NC_000016.9:g.4848430G>A , CM000678.1:g.4848430G>A	GRCh37
NC_000016.8:g.4788431G>A	NCBI36
NG_032174.1:g.9522C>T , LRG_455:g.9522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.531+140C>T MANE Select	ENSP00000322832.6:n.531+140C>T
ENST00000322048.11:c.531+140C>T	ENSP00000322832.5:n.531+140C>T
ENST00000586153.1:c.178-245C>T	ENSP00000464699.1:n.178-245C>T
ENST00000586336.5:n.630+140C>T
ENST00000586504.5:c.311+140C>T
ENST00000587377.5:c.544+140C>T	ENSP00000468343.1:n.544+140C>T
ENST00000587711.5:c.216+140C>T	ENSP00000467459.1:n.216+140C>T
ENST00000587843.5:c.*269+140C>T	ENSP00000465970.1:n.*269+140C>T
ENST00000588201.5:c.*522+140C>T	ENSP00000466529.1:n.*522+140C>T
ENST00000589543.5:n.488+140C>T
ENST00000591292.5:n.1860+140C>T
ENST00000591392.5:c.459+140C>T	ENSP00000467509.1:n.459+140C>T
ENST00000592019.1:c.77-614C>T
NM_024589.2:c.531+140C>T , LRG_455t1:c.531+140C>T	NP_078865.1:n.531+140C>T
NR_046480.1:n.855+140C>T
XM_006720947.2:c.531+140C>T	XP_006721010.1:n.531+140C>T
XM_006720948.2:c.261+140C>T	XP_006721011.1:n.261+140C>T
XM_006720947.4:c.531+140C>T	XP_006721010.1:n.531+140C>T
XM_006720948.4:c.261+140C>T	XP_006721011.1:n.261+140C>T
NM_024589.3:c.531+140C>T MANE Select	NP_078865.1:n.531+140C>T
NR_046480.2:n.538+140C>T