Canonical Allele Identifier: CA394653422

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849742A>T (hg19) ; chr16:g.4799741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799741A>T , CM000678.2:g.4799741A>T	GRCh38
NC_000016.9:g.4849742A>T , CM000678.1:g.4849742A>T	GRCh37
NC_000016.8:g.4789743A>T	NCBI36
NG_032174.1:g.8210T>A , LRG_455:g.8210T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.377T>A MANE Select	ENSP00000322832.6:p.Leu126Gln
ENST00000322048.11:c.377T>A	ENSP00000322832.5:p.Leu126Gln
ENST00000585653.1:n.509T>A
ENST00000586153.1:c.122T>A	ENSP00000464699.1:p.Leu41Gln
ENST00000586336.5:n.476T>A
ENST00000586504.5:c.157T>A
ENST00000587377.5:c.377T>A	ENSP00000468343.1:p.Leu126Gln
ENST00000587711.5:c.118-1074T>A	ENSP00000467459.1:n.118-1074T>A
ENST00000587843.5:c.*115T>A	ENSP00000465970.1:n.*115T>A
ENST00000588201.5:c.*234T>A	ENSP00000466529.1:n.*234T>A
ENST00000589543.5:n.334T>A
ENST00000591292.5:n.1706T>A
ENST00000591392.5:c.305T>A	ENSP00000467509.1:p.Leu102Gln
ENST00000592019.1:c.76+20T>A
NM_024589.2:c.377T>A , LRG_455t1:c.377T>A	NP_078865.1:p.Leu126Gln
NR_046480.1:n.701T>A
XM_006720947.2:c.377T>A	XP_006721010.1:p.Leu126Gln
XM_006720948.2:c.107T>A	XP_006721011.1:p.Leu36Gln
XM_006720947.4:c.377T>A	XP_006721010.1:p.Leu126Gln
XM_006720948.4:c.107T>A	XP_006721011.1:p.Leu36Gln
NM_024589.3:c.377T>A MANE Select	NP_078865.1:p.Leu126Gln
NR_046480.2:n.384T>A