Canonical Allele Identifier: CA394653296

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849719A>T (hg19) ; chr16:g.4799718A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799718A>T , CM000678.2:g.4799718A>T	GRCh38
NC_000016.9:g.4849719A>T , CM000678.1:g.4849719A>T	GRCh37
NC_000016.8:g.4789720A>T	NCBI36
NG_032174.1:g.8233T>A , LRG_455:g.8233T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.400T>A MANE Select	ENSP00000322832.6:p.Tyr134Asn
ENST00000322048.11:c.400T>A	ENSP00000322832.5:p.Tyr134Asn
ENST00000585653.1:n.532T>A
ENST00000586153.1:c.145T>A	ENSP00000464699.1:p.Tyr49Asn
ENST00000586336.5:n.499T>A
ENST00000586504.5:c.180T>A
ENST00000587377.5:c.400T>A	ENSP00000468343.1:p.Tyr134Asn
ENST00000587711.5:c.118-1051T>A	ENSP00000467459.1:n.118-1051T>A
ENST00000587843.5:c.*138T>A	ENSP00000465970.1:n.*138T>A
ENST00000588201.5:c.*257T>A	ENSP00000466529.1:n.*257T>A
ENST00000589543.5:n.357T>A
ENST00000591292.5:n.1729T>A
ENST00000591392.5:c.328T>A	ENSP00000467509.1:p.Tyr110Asn
ENST00000592019.1:c.76+43T>A
NM_024589.2:c.400T>A , LRG_455t1:c.400T>A	NP_078865.1:p.Tyr134Asn
NR_046480.1:n.724T>A
XM_006720947.2:c.400T>A	XP_006721010.1:p.Tyr134Asn
XM_006720948.2:c.130T>A	XP_006721011.1:p.Tyr44Asn
XM_006720947.4:c.400T>A	XP_006721010.1:p.Tyr134Asn
XM_006720948.4:c.130T>A	XP_006721011.1:p.Tyr44Asn
NM_024589.3:c.400T>A MANE Select	NP_078865.1:p.Tyr134Asn
NR_046480.2:n.407T>A