Canonical Allele Identifier: CA7882598

Gene: ROGDI

Linked Data

• dbSNP Id: rs761076573
• ExAC: 16:4848042 G / C
• gnomAD v2: 16-4848042-G-C
• gnomAD v4: 16-4798041-G-C
• MyVariant Identifiers: chr16:g.4848042G>C (hg19) ; chr16:g.4798041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798041G>C , CM000678.2:g.4798041G>C	GRCh38
NC_000016.9:g.4848042G>C , CM000678.1:g.4848042G>C	GRCh37
NC_000016.8:g.4788043G>C	NCBI36
NG_032174.1:g.9910C>G , LRG_455:g.9910C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.645+30C>G MANE Select	ENSP00000322832.6:n.645+30C>G
ENST00000322048.11:c.645+30C>G	ENSP00000322832.5:n.645+30C>G
ENST00000586153.1:c.291+30C>G	ENSP00000464699.1:n.291+30C>G
ENST00000586336.5:n.744+30C>G
ENST00000586504.5:c.425+30C>G
ENST00000587377.5:c.658+30C>G	ENSP00000468343.1:n.658+30C>G
ENST00000587711.5:c.330+30C>G	ENSP00000467459.1:n.330+30C>G
ENST00000587843.5:c.*383+30C>G	ENSP00000465970.1:n.*383+30C>G
ENST00000588201.5:c.*636+30C>G	ENSP00000466529.1:n.*636+30C>G
ENST00000589543.5:n.602+30C>G
ENST00000591292.5:n.1974+30C>G
ENST00000591392.5:c.573+30C>G	ENSP00000467509.1:n.573+30C>G
ENST00000592019.1:c.77-226C>G
NM_024589.2:c.645+30C>G , LRG_455t1:c.645+30C>G	NP_078865.1:n.645+30C>G
NR_046480.1:n.969+30C>G
XM_006720947.2:c.645+30C>G	XP_006721010.1:n.645+30C>G
XM_006720948.2:c.375+30C>G	XP_006721011.1:n.375+30C>G
XM_006720947.4:c.645+30C>G	XP_006721010.1:n.645+30C>G
XM_006720948.4:c.375+30C>G	XP_006721011.1:n.375+30C>G
NM_024589.3:c.645+30C>G MANE Select	NP_078865.1:n.645+30C>G
NR_046480.2:n.652+30C>G