Canonical Allele Identifier: CA493404967

Gene: ROGDI

Linked Data

• dbSNP Id: rs1204605702
• gnomAD v2: 16-4847944-G-C
• gnomAD v4: 16-4797943-G-C
• MyVariant Identifiers: chr16:g.4847944G>C (hg19) ; chr16:g.4797943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797943G>C , CM000678.2:g.4797943G>C	GRCh38
NC_000016.9:g.4847944G>C , CM000678.1:g.4847944G>C	GRCh37
NC_000016.8:g.4787945G>C	NCBI36
NG_032174.1:g.10008C>G , LRG_455:g.10008C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.690C>G MANE Select	ENSP00000322832.6:p.Ala230=
ENST00000322048.11:c.690C>G	ENSP00000322832.5:p.Ala230=
ENST00000586153.1:c.336C>G	ENSP00000464699.1:p.Ala112=
ENST00000586336.5:n.789C>G
ENST00000586504.5:c.426-103C>G
ENST00000587377.5:c.*10C>G	ENSP00000468343.1:n.*10C>G
ENST00000587711.5:c.375C>G	ENSP00000467459.1:p.Ala125=
ENST00000587843.5:c.*428C>G	ENSP00000465970.1:n.*428C>G
ENST00000588201.5:c.*681C>G	ENSP00000466529.1:n.*681C>G
ENST00000589543.5:n.647C>G
ENST00000591292.5:n.2019C>G
ENST00000591392.5:c.618C>G	ENSP00000467509.1:p.Ala206=
ENST00000592019.1:c.77-128C>G
NM_024589.2:c.690C>G , LRG_455t1:c.690C>G	NP_078865.1:p.Ala230=
NR_046480.1:n.1014C>G
XM_006720947.2:c.690C>G	XP_006721010.1:p.Ala230=
XM_006720948.2:c.420C>G	XP_006721011.1:p.Ala140=
XM_006720947.4:c.690C>G	XP_006721010.1:p.Ala230=
XM_006720948.4:c.420C>G	XP_006721011.1:p.Ala140=
NM_024589.3:c.690C>G MANE Select	NP_078865.1:p.Ala230=
NR_046480.2:n.697C>G