Canonical Allele Identifier: CA394653418

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849740G>A (hg19) ; chr16:g.4799739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799739G>A , CM000678.2:g.4799739G>A	GRCh38
NC_000016.9:g.4849740G>A , CM000678.1:g.4849740G>A	GRCh37
NC_000016.8:g.4789741G>A	NCBI36
NG_032174.1:g.8212C>T , LRG_455:g.8212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.379C>T MANE Select	ENSP00000322832.6:p.Leu127Phe
ENST00000322048.11:c.379C>T	ENSP00000322832.5:p.Leu127Phe
ENST00000585653.1:n.511C>T
ENST00000586153.1:c.124C>T	ENSP00000464699.1:p.Leu42Phe
ENST00000586336.5:n.478C>T
ENST00000586504.5:c.159C>T
ENST00000587377.5:c.379C>T	ENSP00000468343.1:p.Leu127Phe
ENST00000587711.5:c.118-1072C>T	ENSP00000467459.1:n.118-1072C>T
ENST00000587843.5:c.*117C>T	ENSP00000465970.1:n.*117C>T
ENST00000588201.5:c.*236C>T	ENSP00000466529.1:n.*236C>T
ENST00000589543.5:n.336C>T
ENST00000591292.5:n.1708C>T
ENST00000591392.5:c.307C>T	ENSP00000467509.1:p.Leu103Phe
ENST00000592019.1:c.76+22C>T
NM_024589.2:c.379C>T , LRG_455t1:c.379C>T	NP_078865.1:p.Leu127Phe
NR_046480.1:n.703C>T
XM_006720947.2:c.379C>T	XP_006721010.1:p.Leu127Phe
XM_006720948.2:c.109C>T	XP_006721011.1:p.Leu37Phe
XM_006720947.4:c.379C>T	XP_006721010.1:p.Leu127Phe
XM_006720948.4:c.109C>T	XP_006721011.1:p.Leu37Phe
NM_024589.3:c.379C>T MANE Select	NP_078865.1:p.Leu127Phe
NR_046480.2:n.386C>T