Canonical Allele Identifier: CA721102022

Gene: ROGDI

Linked Data

• dbSNP Id: rs1365562310
• gnomAD v3: 16-4799677-G-A
• gnomAD v4: 16-4799677-G-A
• MyVariant Identifiers: chr16:g.4849678G>A (hg19) ; chr16:g.4799677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799677G>A , CM000678.2:g.4799677G>A	GRCh38
NC_000016.9:g.4849678G>A , CM000678.1:g.4849678G>A	GRCh37
NC_000016.8:g.4789679G>A	NCBI36
NG_032174.1:g.8274C>T , LRG_455:g.8274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.432+9C>T MANE Select	ENSP00000322832.6:n.432+9C>T
ENST00000322048.11:c.432+9C>T	ENSP00000322832.5:n.432+9C>T
ENST00000585653.1:n.564+9C>T
ENST00000586153.1:c.177+9C>T	ENSP00000464699.1:n.177+9C>T
ENST00000586336.5:n.531+9C>T
ENST00000586504.5:c.212+9C>T
ENST00000587377.5:c.423+18C>T	ENSP00000468343.1:n.423+18C>T
ENST00000587711.5:c.118-1010C>T	ENSP00000467459.1:n.118-1010C>T
ENST00000587843.5:c.*170+9C>T	ENSP00000465970.1:n.*170+9C>T
ENST00000588201.5:c.*289+9C>T	ENSP00000466529.1:n.*289+9C>T
ENST00000589543.5:n.389+9C>T
ENST00000591292.5:n.1761+9C>T
ENST00000591392.5:c.360+9C>T	ENSP00000467509.1:n.360+9C>T
ENST00000592019.1:c.76+84C>T
NM_024589.2:c.432+9C>T , LRG_455t1:c.432+9C>T	NP_078865.1:n.432+9C>T
NR_046480.1:n.756+9C>T
XM_006720947.2:c.432+9C>T	XP_006721010.1:n.432+9C>T
XM_006720948.2:c.162+9C>T	XP_006721011.1:n.162+9C>T
XM_006720947.4:c.432+9C>T	XP_006721010.1:n.432+9C>T
XM_006720948.4:c.162+9C>T	XP_006721011.1:n.162+9C>T
NM_024589.3:c.432+9C>T MANE Select	NP_078865.1:n.432+9C>T
NR_046480.2:n.439+9C>T