Canonical Allele Identifier: CA394649848

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848073T>A (hg19) ; chr16:g.4798072T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798072T>A , CM000678.2:g.4798072T>A	GRCh38
NC_000016.9:g.4848073T>A , CM000678.1:g.4848073T>A	GRCh37
NC_000016.8:g.4788074T>A	NCBI36
NG_032174.1:g.9879A>T , LRG_455:g.9879A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.644A>T MANE Select	ENSP00000322832.6:p.Lys215Met
ENST00000322048.11:c.644A>T	ENSP00000322832.5:p.Lys215Met
ENST00000586153.1:c.290A>T	ENSP00000464699.1:p.Lys97Met
ENST00000586336.5:n.743A>T
ENST00000586504.5:c.424A>T
ENST00000587377.5:c.657A>T	ENSP00000468343.1:p.Gln219His
ENST00000587711.5:c.329A>T	ENSP00000467459.1:p.Lys110Met
ENST00000587843.5:c.*382A>T	ENSP00000465970.1:n.*382A>T
ENST00000588201.5:c.*635A>T	ENSP00000466529.1:n.*635A>T
ENST00000589543.5:n.601A>T
ENST00000591292.5:n.1973A>T
ENST00000591392.5:c.572A>T	ENSP00000467509.1:p.Lys191Met
ENST00000592019.1:c.77-257A>T
NM_024589.2:c.644A>T , LRG_455t1:c.644A>T	NP_078865.1:p.Lys215Met
NR_046480.1:n.968A>T
XM_006720947.2:c.644A>T	XP_006721010.1:p.Lys215Met
XM_006720948.2:c.374A>T	XP_006721011.1:p.Lys125Met
XM_006720947.4:c.644A>T	XP_006721010.1:p.Lys215Met
XM_006720948.4:c.374A>T	XP_006721011.1:p.Lys125Met
NM_024589.3:c.644A>T MANE Select	NP_078865.1:p.Lys215Met
NR_046480.2:n.651A>T