Canonical Allele Identifier: CA7882539

Gene: ROGDI

Linked Data

• dbSNP Id: rs753552648
• ExAC: 16:4847911 C / A
• gnomAD v2: 16-4847911-C-A
• gnomAD v4: 16-4797910-C-A
• MyVariant Identifiers: chr16:g.4847911C>A (hg19) ; chr16:g.4797910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797910C>A , CM000678.2:g.4797910C>A	GRCh38
NC_000016.9:g.4847911C>A , CM000678.1:g.4847911C>A	GRCh37
NC_000016.8:g.4787912C>A	NCBI36
NG_032174.1:g.10041G>T , LRG_455:g.10041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.695+28G>T MANE Select	ENSP00000322832.6:n.695+28G>T
ENST00000322048.11:c.695+28G>T	ENSP00000322832.5:n.695+28G>T
ENST00000586153.1:c.341+28G>T	ENSP00000464699.1:n.341+28G>T
ENST00000586336.5:n.794+28G>T
ENST00000586504.5:c.426-70G>T
ENST00000587377.5:c.*15+28G>T	ENSP00000468343.1:n.*15+28G>T
ENST00000587711.5:c.380+28G>T	ENSP00000467459.1:n.380+28G>T
ENST00000587843.5:c.*433+28G>T	ENSP00000465970.1:n.*433+28G>T
ENST00000588201.5:c.*686+28G>T	ENSP00000466529.1:n.*686+28G>T
ENST00000589543.5:n.652+28G>T
ENST00000591292.5:n.2024+28G>T
ENST00000591392.5:c.623+28G>T	ENSP00000467509.1:n.623+28G>T
ENST00000592019.1:c.77-95G>T
NM_024589.2:c.695+28G>T , LRG_455t1:c.695+28G>T	NP_078865.1:n.695+28G>T
NR_046480.1:n.1019+28G>T
XM_006720947.2:c.695+28G>T	XP_006721010.1:n.695+28G>T
XM_006720948.2:c.425+28G>T	XP_006721011.1:n.425+28G>T
XM_006720947.4:c.695+28G>T	XP_006721010.1:n.695+28G>T
XM_006720948.4:c.425+28G>T	XP_006721011.1:n.425+28G>T
NM_024589.3:c.695+28G>T MANE Select	NP_078865.1:n.695+28G>T
NR_046480.2:n.702+28G>T