Canonical Allele Identifier: CA394649365

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4847943T>A (hg19) ; chr16:g.4797942T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797942T>A , CM000678.2:g.4797942T>A	GRCh38
NC_000016.9:g.4847943T>A , CM000678.1:g.4847943T>A	GRCh37
NC_000016.8:g.4787944T>A	NCBI36
NG_032174.1:g.10009A>T , LRG_455:g.10009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.691A>T MANE Select	ENSP00000322832.6:p.Met231Leu
ENST00000322048.11:c.691A>T	ENSP00000322832.5:p.Met231Leu
ENST00000586153.1:c.337A>T	ENSP00000464699.1:p.Met113Leu
ENST00000586336.5:n.790A>T
ENST00000586504.5:c.426-102A>T
ENST00000587377.5:c.*11A>T	ENSP00000468343.1:n.*11A>T
ENST00000587711.5:c.376A>T	ENSP00000467459.1:p.Met126Leu
ENST00000587843.5:c.*429A>T	ENSP00000465970.1:n.*429A>T
ENST00000588201.5:c.*682A>T	ENSP00000466529.1:n.*682A>T
ENST00000589543.5:n.648A>T
ENST00000591292.5:n.2020A>T
ENST00000591392.5:c.619A>T	ENSP00000467509.1:p.Met207Leu
ENST00000592019.1:c.77-127A>T
NM_024589.2:c.691A>T , LRG_455t1:c.691A>T	NP_078865.1:p.Met231Leu
NR_046480.1:n.1015A>T
XM_006720947.2:c.691A>T	XP_006721010.1:p.Met231Leu
XM_006720948.2:c.421A>T	XP_006721011.1:p.Met141Leu
XM_006720947.4:c.691A>T	XP_006721010.1:p.Met231Leu
XM_006720948.4:c.421A>T	XP_006721011.1:p.Met141Leu
NM_024589.3:c.691A>T MANE Select	NP_078865.1:p.Met231Leu
NR_046480.2:n.698A>T