Canonical Allele Identifier: CA974003820

Gene: ROGDI

Linked Data

• dbSNP Id: rs1596274624
• gnomAD v3: 16-4797915-A-C
• gnomAD v4: 16-4797915-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797915A>C , CM000678.2:g.4797915A>C	GRCh38
NC_000016.9:g.4847916A>C , CM000678.1:g.4847916A>C	GRCh37
NC_000016.8:g.4787917A>C	NCBI36
NG_032174.1:g.10036T>G , LRG_455:g.10036T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.695+23T>G MANE Select	ENSP00000322832.6:n.695+23T>G
ENST00000322048.11:c.695+23T>G	ENSP00000322832.5:n.695+23T>G
ENST00000586153.1:c.341+23T>G	ENSP00000464699.1:n.341+23T>G
ENST00000586336.5:n.794+23T>G
ENST00000586504.5:c.426-75T>G
ENST00000587377.5:c.*15+23T>G	ENSP00000468343.1:n.*15+23T>G
ENST00000587711.5:c.380+23T>G	ENSP00000467459.1:n.380+23T>G
ENST00000587843.5:c.*433+23T>G	ENSP00000465970.1:n.*433+23T>G
ENST00000588201.5:c.*686+23T>G	ENSP00000466529.1:n.*686+23T>G
ENST00000589543.5:n.652+23T>G
ENST00000591292.5:n.2024+23T>G
ENST00000591392.5:c.623+23T>G	ENSP00000467509.1:n.623+23T>G
ENST00000592019.1:c.77-100T>G
NM_024589.2:c.695+23T>G , LRG_455t1:c.695+23T>G	NP_078865.1:n.695+23T>G
NR_046480.1:n.1019+23T>G
XM_006720947.2:c.695+23T>G	XP_006721010.1:n.695+23T>G
XM_006720948.2:c.425+23T>G	XP_006721011.1:n.425+23T>G
XM_006720947.4:c.695+23T>G	XP_006721010.1:n.695+23T>G
XM_006720948.4:c.425+23T>G	XP_006721011.1:n.425+23T>G
NM_024589.3:c.695+23T>G MANE Select	NP_078865.1:n.695+23T>G
NR_046480.2:n.702+23T>G