Canonical Allele Identifier: CA2575900051

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797879-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797879C>G , CM000678.2:g.4797879C>G	GRCh38
NC_000016.9:g.4847880C>G , CM000678.1:g.4847880C>G	GRCh37
NC_000016.8:g.4787881C>G	NCBI36
NG_032174.1:g.10072G>C , LRG_455:g.10072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.696-39G>C MANE Select	ENSP00000322832.6:n.696-39G>C
ENST00000322048.11:c.696-39G>C	ENSP00000322832.5:n.696-39G>C
ENST00000586153.1:c.342-43G>C	ENSP00000464699.1:n.342-43G>C
ENST00000586336.5:n.795-39G>C
ENST00000586504.5:c.426-39G>C
ENST00000587377.5:c.*16-39G>C	ENSP00000468343.1:n.*16-39G>C
ENST00000587711.5:c.381-39G>C	ENSP00000467459.1:n.381-39G>C
ENST00000587843.5:c.*434-39G>C	ENSP00000465970.1:n.*434-39G>C
ENST00000588201.5:c.*687-39G>C	ENSP00000466529.1:n.*687-39G>C
ENST00000589543.5:n.653-39G>C
ENST00000591292.5:n.2025-39G>C
ENST00000591392.5:c.624-39G>C	ENSP00000467509.1:n.624-39G>C
ENST00000592019.1:c.77-64G>C
NM_024589.2:c.696-39G>C , LRG_455t1:c.696-39G>C	NP_078865.1:n.696-39G>C
NR_046480.1:n.1020-39G>C
XM_006720947.2:c.696-18G>C	XP_006721010.1:n.696-18G>C
XM_006720948.2:c.426-18G>C	XP_006721011.1:n.426-18G>C
XM_006720947.4:c.696-18G>C	XP_006721010.1:n.696-18G>C
XM_006720948.4:c.426-18G>C	XP_006721011.1:n.426-18G>C
NM_024589.3:c.696-39G>C MANE Select	NP_078865.1:n.696-39G>C
NR_046480.2:n.703-39G>C