Canonical Allele Identifier: CA394653131

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849687C>A (hg19) ; chr16:g.4799686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799686C>A , CM000678.2:g.4799686C>A	GRCh38
NC_000016.9:g.4849687C>A , CM000678.1:g.4849687C>A	GRCh37
NC_000016.8:g.4789688C>A	NCBI36
NG_032174.1:g.8265G>T , LRG_455:g.8265G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.432G>T MANE Select	ENSP00000322832.6:p.Lys144Asn
ENST00000322048.11:c.432G>T	ENSP00000322832.5:p.Lys144Asn
ENST00000585653.1:n.564G>T
ENST00000586153.1:c.177G>T	ENSP00000464699.1:p.Lys59Asn
ENST00000586336.5:n.531G>T
ENST00000586504.5:c.212G>T
ENST00000587377.5:c.423+9G>T	ENSP00000468343.1:n.423+9G>T
ENST00000587711.5:c.118-1019G>T	ENSP00000467459.1:n.118-1019G>T
ENST00000587843.5:c.*170G>T	ENSP00000465970.1:n.*170G>T
ENST00000588201.5:c.*289G>T	ENSP00000466529.1:n.*289G>T
ENST00000589543.5:n.389G>T
ENST00000591292.5:n.1761G>T
ENST00000591392.5:c.360G>T	ENSP00000467509.1:p.Lys120Asn
ENST00000592019.1:c.76+75G>T
NM_024589.2:c.432G>T , LRG_455t1:c.432G>T	NP_078865.1:p.Lys144Asn
NR_046480.1:n.756G>T
XM_006720947.2:c.432G>T	XP_006721010.1:p.Lys144Asn
XM_006720948.2:c.162G>T	XP_006721011.1:p.Lys54Asn
XM_006720947.4:c.432G>T	XP_006721010.1:p.Lys144Asn
XM_006720948.4:c.162G>T	XP_006721011.1:p.Lys54Asn
NM_024589.3:c.432G>T MANE Select	NP_078865.1:p.Lys144Asn
NR_046480.2:n.439G>T