Canonical Allele Identifier: CA7882725

Gene: ROGDI

Linked Data

• dbSNP Id: rs200593071
• ExAC: 16:4849646 C / A
• gnomAD v2: 16-4849646-C-A
• gnomAD v3: 16-4799645-C-A
• gnomAD v4: 16-4799645-C-A
• MyVariant Identifiers: chr16:g.4849646C>A (hg19) ; chr16:g.4799645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799645C>A , CM000678.2:g.4799645C>A	GRCh38
NC_000016.9:g.4849646C>A , CM000678.1:g.4849646C>A	GRCh37
NC_000016.8:g.4789647C>A	NCBI36
NG_032174.1:g.8306G>T , LRG_455:g.8306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.432+41G>T MANE Select	ENSP00000322832.6:n.432+41G>T
ENST00000322048.11:c.432+41G>T	ENSP00000322832.5:n.432+41G>T
ENST00000585653.1:n.564+41G>T
ENST00000586153.1:c.177+41G>T	ENSP00000464699.1:n.177+41G>T
ENST00000586336.5:n.531+41G>T
ENST00000586504.5:c.212+41G>T
ENST00000587377.5:c.423+50G>T	ENSP00000468343.1:n.423+50G>T
ENST00000587711.5:c.118-978G>T	ENSP00000467459.1:n.118-978G>T
ENST00000587843.5:c.*170+41G>T	ENSP00000465970.1:n.*170+41G>T
ENST00000588201.5:c.*289+41G>T	ENSP00000466529.1:n.*289+41G>T
ENST00000589543.5:n.389+41G>T
ENST00000591292.5:n.1761+41G>T
ENST00000591392.5:c.360+41G>T	ENSP00000467509.1:n.360+41G>T
ENST00000592019.1:c.76+116G>T
NM_024589.2:c.432+41G>T , LRG_455t1:c.432+41G>T	NP_078865.1:n.432+41G>T
NR_046480.1:n.756+41G>T
XM_006720947.2:c.432+41G>T	XP_006721010.1:n.432+41G>T
XM_006720948.2:c.162+41G>T	XP_006721011.1:n.162+41G>T
XM_006720947.4:c.432+41G>T	XP_006721010.1:n.432+41G>T
XM_006720948.4:c.162+41G>T	XP_006721011.1:n.162+41G>T
NM_024589.3:c.432+41G>T MANE Select	NP_078865.1:n.432+41G>T
NR_046480.2:n.439+41G>T