Canonical Allele Identifier: CA394649872

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848077T>A (hg19) ; chr16:g.4798076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798076T>A , CM000678.2:g.4798076T>A	GRCh38
NC_000016.9:g.4848077T>A , CM000678.1:g.4848077T>A	GRCh37
NC_000016.8:g.4788078T>A	NCBI36
NG_032174.1:g.9875A>T , LRG_455:g.9875A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.640A>T MANE Select	ENSP00000322832.6:p.Thr214Ser
ENST00000322048.11:c.640A>T	ENSP00000322832.5:p.Thr214Ser
ENST00000586153.1:c.286A>T	ENSP00000464699.1:p.Thr96Ser
ENST00000586336.5:n.739A>T
ENST00000586504.5:c.420A>T
ENST00000587377.5:c.653A>T	ENSP00000468343.1:p.His218Leu
ENST00000587711.5:c.325A>T	ENSP00000467459.1:p.Thr109Ser
ENST00000587843.5:c.*378A>T	ENSP00000465970.1:n.*378A>T
ENST00000588201.5:c.*631A>T	ENSP00000466529.1:n.*631A>T
ENST00000589543.5:n.597A>T
ENST00000591292.5:n.1969A>T
ENST00000591392.5:c.568A>T	ENSP00000467509.1:p.Thr190Ser
ENST00000592019.1:c.77-261A>T
NM_024589.2:c.640A>T , LRG_455t1:c.640A>T	NP_078865.1:p.Thr214Ser
NR_046480.1:n.964A>T
XM_006720947.2:c.640A>T	XP_006721010.1:p.Thr214Ser
XM_006720948.2:c.370A>T	XP_006721011.1:p.Thr124Ser
XM_006720947.4:c.640A>T	XP_006721010.1:p.Thr214Ser
XM_006720948.4:c.370A>T	XP_006721011.1:p.Thr124Ser
NM_024589.3:c.640A>T MANE Select	NP_078865.1:p.Thr214Ser
NR_046480.2:n.647A>T