Canonical Allele Identifier: CA620513134

Gene: ROGDI

Linked Data

• dbSNP Id: rs765163435
• gnomAD v2: 16-4848233-C-G
• gnomAD v3: 16-4798232-C-G
• gnomAD v4: 16-4798232-C-G
• MyVariant Identifiers: chr16:g.4848233C>G (hg19) ; chr16:g.4798232C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798232C>G , CM000678.2:g.4798232C>G	GRCh38
NC_000016.9:g.4848233C>G , CM000678.1:g.4848233C>G	GRCh37
NC_000016.8:g.4788234C>G	NCBI36
NG_032174.1:g.9719G>C , LRG_455:g.9719G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.532-48G>C MANE Select	ENSP00000322832.6:n.532-48G>C
ENST00000322048.11:c.532-48G>C	ENSP00000322832.5:n.532-48G>C
ENST00000586153.1:c.178-48G>C	ENSP00000464699.1:n.178-48G>C
ENST00000586336.5:n.631-48G>C
ENST00000586504.5:c.312-48G>C
ENST00000587377.5:c.545-48G>C	ENSP00000468343.1:n.545-48G>C
ENST00000587711.5:c.217-48G>C	ENSP00000467459.1:n.217-48G>C
ENST00000587843.5:c.*270-48G>C	ENSP00000465970.1:n.*270-48G>C
ENST00000588201.5:c.*523-48G>C	ENSP00000466529.1:n.*523-48G>C
ENST00000589543.5:n.489-48G>C
ENST00000591292.5:n.1861-48G>C
ENST00000591392.5:c.460-48G>C	ENSP00000467509.1:n.460-48G>C
ENST00000592019.1:c.77-417G>C
NM_024589.2:c.532-48G>C , LRG_455t1:c.532-48G>C	NP_078865.1:n.532-48G>C
NR_046480.1:n.856-48G>C
XM_006720947.2:c.532-48G>C	XP_006721010.1:n.532-48G>C
XM_006720948.2:c.262-48G>C	XP_006721011.1:n.262-48G>C
XM_006720947.4:c.532-48G>C	XP_006721010.1:n.532-48G>C
XM_006720948.4:c.262-48G>C	XP_006721011.1:n.262-48G>C
NM_024589.3:c.532-48G>C MANE Select	NP_078865.1:n.532-48G>C
NR_046480.2:n.539-48G>C