Canonical Allele Identifier: CA277136172

Gene: ROGDI

Linked Data

• dbSNP Id: rs374153042
• MyVariant Identifiers: chr16:g.4848076G>A (hg19) ; chr16:g.4798075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798075G>A , CM000678.2:g.4798075G>A	GRCh38
NC_000016.9:g.4848076G>A , CM000678.1:g.4848076G>A	GRCh37
NC_000016.8:g.4788077G>A	NCBI36
NG_032174.1:g.9876C>T , LRG_455:g.9876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.641C>T MANE Select	ENSP00000322832.6:p.Thr214Ile
ENST00000322048.11:c.641C>T	ENSP00000322832.5:p.Thr214Ile
ENST00000586153.1:c.287C>T	ENSP00000464699.1:p.Thr96Ile
ENST00000586336.5:n.740C>T
ENST00000586504.5:c.421C>T
ENST00000587377.5:c.654C>T	ENSP00000468343.1:p.His218=
ENST00000587711.5:c.326C>T	ENSP00000467459.1:p.Thr109Ile
ENST00000587843.5:c.*379C>T	ENSP00000465970.1:n.*379C>T
ENST00000588201.5:c.*632C>T	ENSP00000466529.1:n.*632C>T
ENST00000589543.5:n.598C>T
ENST00000591292.5:n.1970C>T
ENST00000591392.5:c.569C>T	ENSP00000467509.1:p.Thr190Ile
ENST00000592019.1:c.77-260C>T
NM_024589.2:c.641C>T , LRG_455t1:c.641C>T	NP_078865.1:p.Thr214Ile
NR_046480.1:n.965C>T
XM_006720947.2:c.641C>T	XP_006721010.1:p.Thr214Ile
XM_006720948.2:c.371C>T	XP_006721011.1:p.Thr124Ile
XM_006720947.4:c.641C>T	XP_006721010.1:p.Thr214Ile
XM_006720948.4:c.371C>T	XP_006721011.1:p.Thr124Ile
NM_024589.3:c.641C>T MANE Select	NP_078865.1:p.Thr214Ile
NR_046480.2:n.648C>T