Canonical Allele Identifier: CA394653231

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849707T>A (hg19) ; chr16:g.4799706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799706T>A , CM000678.2:g.4799706T>A	GRCh38
NC_000016.9:g.4849707T>A , CM000678.1:g.4849707T>A	GRCh37
NC_000016.8:g.4789708T>A	NCBI36
NG_032174.1:g.8245A>T , LRG_455:g.8245A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.412A>T MANE Select	ENSP00000322832.6:p.Thr138Ser
ENST00000322048.11:c.412A>T	ENSP00000322832.5:p.Thr138Ser
ENST00000585653.1:n.544A>T
ENST00000586153.1:c.157A>T	ENSP00000464699.1:p.Thr53Ser
ENST00000586336.5:n.511A>T
ENST00000586504.5:c.192A>T
ENST00000587377.5:c.412A>T	ENSP00000468343.1:p.Thr138Ser
ENST00000587711.5:c.118-1039A>T	ENSP00000467459.1:n.118-1039A>T
ENST00000587843.5:c.*150A>T	ENSP00000465970.1:n.*150A>T
ENST00000588201.5:c.*269A>T	ENSP00000466529.1:n.*269A>T
ENST00000589543.5:n.369A>T
ENST00000591292.5:n.1741A>T
ENST00000591392.5:c.340A>T	ENSP00000467509.1:p.Thr114Ser
ENST00000592019.1:c.76+55A>T
NM_024589.2:c.412A>T , LRG_455t1:c.412A>T	NP_078865.1:p.Thr138Ser
NR_046480.1:n.736A>T
XM_006720947.2:c.412A>T	XP_006721010.1:p.Thr138Ser
XM_006720948.2:c.142A>T	XP_006721011.1:p.Thr48Ser
XM_006720947.4:c.412A>T	XP_006721010.1:p.Thr138Ser
XM_006720948.4:c.142A>T	XP_006721011.1:p.Thr48Ser
NM_024589.3:c.412A>T MANE Select	NP_078865.1:p.Thr138Ser
NR_046480.2:n.419A>T