Canonical Allele Identifier: CA493320330

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849738A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799737A>G , CM000678.2:g.4799737A>G	GRCh38
NC_000016.9:g.4849738A>G , CM000678.1:g.4849738A>G	GRCh37
NC_000016.8:g.4789739A>G	NCBI36
NG_032174.1:g.8214T>C , LRG_455:g.8214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.381T>C MANE Select	ENSP00000322832.6:p.Leu127=
ENST00000322048.11:c.381T>C	ENSP00000322832.5:p.Leu127=
ENST00000585653.1:n.513T>C
ENST00000586153.1:c.126T>C	ENSP00000464699.1:p.Leu42=
ENST00000586336.5:n.480T>C
ENST00000586504.5:c.161T>C
ENST00000587377.5:c.381T>C	ENSP00000468343.1:p.Leu127=
ENST00000587711.5:c.118-1070T>C	ENSP00000467459.1:n.118-1070T>C
ENST00000587843.5:c.*119T>C	ENSP00000465970.1:n.*119T>C
ENST00000588201.5:c.*238T>C	ENSP00000466529.1:n.*238T>C
ENST00000589543.5:n.338T>C
ENST00000591292.5:n.1710T>C
ENST00000591392.5:c.309T>C	ENSP00000467509.1:p.Leu103=
ENST00000592019.1:c.76+24T>C
NM_024589.2:c.381T>C , LRG_455t1:c.381T>C	NP_078865.1:p.Leu127=
NR_046480.1:n.705T>C
XM_006720947.2:c.381T>C	XP_006721010.1:p.Leu127=
XM_006720948.2:c.111T>C	XP_006721011.1:p.Leu37=
XM_006720947.4:c.381T>C	XP_006721010.1:p.Leu127=
XM_006720948.4:c.111T>C	XP_006721011.1:p.Leu37=
NM_024589.3:c.381T>C MANE Select	NP_078865.1:p.Leu127=
NR_046480.2:n.388T>C