Canonical Allele Identifier: CA493320317

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799704-C-A
• MyVariant Identifiers: chr16:g.4849705C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799704C>A , CM000678.2:g.4799704C>A	GRCh38
NC_000016.9:g.4849705C>A , CM000678.1:g.4849705C>A	GRCh37
NC_000016.8:g.4789706C>A	NCBI36
NG_032174.1:g.8247G>T , LRG_455:g.8247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.414G>T MANE Select	ENSP00000322832.6:p.Thr138=
ENST00000322048.11:c.414G>T	ENSP00000322832.5:p.Thr138=
ENST00000585653.1:n.546G>T
ENST00000586153.1:c.159G>T	ENSP00000464699.1:p.Thr53=
ENST00000586336.5:n.513G>T
ENST00000586504.5:c.194G>T
ENST00000587377.5:c.414G>T	ENSP00000468343.1:p.Thr138=
ENST00000587711.5:c.118-1037G>T	ENSP00000467459.1:n.118-1037G>T
ENST00000587843.5:c.*152G>T	ENSP00000465970.1:n.*152G>T
ENST00000588201.5:c.*271G>T	ENSP00000466529.1:n.*271G>T
ENST00000589543.5:n.371G>T
ENST00000591292.5:n.1743G>T
ENST00000591392.5:c.342G>T	ENSP00000467509.1:p.Thr114=
ENST00000592019.1:c.76+57G>T
NM_024589.2:c.414G>T , LRG_455t1:c.414G>T	NP_078865.1:p.Thr138=
NR_046480.1:n.738G>T
XM_006720947.2:c.414G>T	XP_006721010.1:p.Thr138=
XM_006720948.2:c.144G>T	XP_006721011.1:p.Thr48=
XM_006720947.4:c.414G>T	XP_006721010.1:p.Thr138=
XM_006720948.4:c.144G>T	XP_006721011.1:p.Thr48=
NM_024589.3:c.414G>T MANE Select	NP_078865.1:p.Thr138=
NR_046480.2:n.421G>T