Canonical Allele Identifier: CA7882555

Gene: ROGDI

Linked Data

• dbSNP Id: rs752089137
• ExAC: 16:4847959 C / T
• gnomAD v2: 16-4847959-C-T
• gnomAD v4: 16-4797958-C-T
• MyVariant Identifiers: chr16:g.4847959C>T (hg19) ; chr16:g.4797958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797958C>T , CM000678.2:g.4797958C>T	GRCh38
NC_000016.9:g.4847959C>T , CM000678.1:g.4847959C>T	GRCh37
NC_000016.8:g.4787960C>T	NCBI36
NG_032174.1:g.9993G>A , LRG_455:g.9993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.675G>A MANE Select	ENSP00000322832.6:p.Leu225=
ENST00000322048.11:c.675G>A	ENSP00000322832.5:p.Leu225=
ENST00000586153.1:c.321G>A	ENSP00000464699.1:p.Leu107=
ENST00000586336.5:n.774G>A
ENST00000586504.5:c.425+113G>A
ENST00000587377.5:c.688G>A	ENSP00000468343.1:p.Ala230Thr
ENST00000587711.5:c.360G>A	ENSP00000467459.1:p.Leu120=
ENST00000587843.5:c.*413G>A	ENSP00000465970.1:n.*413G>A
ENST00000588201.5:c.*666G>A	ENSP00000466529.1:n.*666G>A
ENST00000589543.5:n.632G>A
ENST00000591292.5:n.2004G>A
ENST00000591392.5:c.603G>A	ENSP00000467509.1:p.Leu201=
ENST00000592019.1:c.77-143G>A
NM_024589.2:c.675G>A , LRG_455t1:c.675G>A	NP_078865.1:p.Leu225=
NR_046480.1:n.999G>A
XM_006720947.2:c.675G>A	XP_006721010.1:p.Leu225=
XM_006720948.2:c.405G>A	XP_006721011.1:p.Leu135=
XM_006720947.4:c.675G>A	XP_006721010.1:p.Leu225=
XM_006720948.4:c.405G>A	XP_006721011.1:p.Leu135=
NM_024589.3:c.675G>A MANE Select	NP_078865.1:p.Leu225=
NR_046480.2:n.682G>A