Canonical Allele Identifier: CA721100322

Gene: ROGDI

Linked Data

• dbSNP Id: rs1415472574
• gnomAD v3: 16-4798239-G-A
• gnomAD v4: 16-4798239-G-A
• MyVariant Identifiers: chr16:g.4848240G>A (hg19) ; chr16:g.4798239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798239G>A , CM000678.2:g.4798239G>A	GRCh38
NC_000016.9:g.4848240G>A , CM000678.1:g.4848240G>A	GRCh37
NC_000016.8:g.4788241G>A	NCBI36
NG_032174.1:g.9712C>T , LRG_455:g.9712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.532-55C>T MANE Select	ENSP00000322832.6:n.532-55C>T
ENST00000322048.11:c.532-55C>T	ENSP00000322832.5:n.532-55C>T
ENST00000586153.1:c.178-55C>T	ENSP00000464699.1:n.178-55C>T
ENST00000586336.5:n.631-55C>T
ENST00000586504.5:c.312-55C>T
ENST00000587377.5:c.545-55C>T	ENSP00000468343.1:n.545-55C>T
ENST00000587711.5:c.217-55C>T	ENSP00000467459.1:n.217-55C>T
ENST00000587843.5:c.*270-55C>T	ENSP00000465970.1:n.*270-55C>T
ENST00000588201.5:c.*523-55C>T	ENSP00000466529.1:n.*523-55C>T
ENST00000589543.5:n.489-55C>T
ENST00000591292.5:n.1861-55C>T
ENST00000591392.5:c.460-55C>T	ENSP00000467509.1:n.460-55C>T
ENST00000592019.1:c.77-424C>T
NM_024589.2:c.532-55C>T , LRG_455t1:c.532-55C>T	NP_078865.1:n.532-55C>T
NR_046480.1:n.856-55C>T
XM_006720947.2:c.532-55C>T	XP_006721010.1:n.532-55C>T
XM_006720948.2:c.262-55C>T	XP_006721011.1:n.262-55C>T
XM_006720947.4:c.532-55C>T	XP_006721010.1:n.532-55C>T
XM_006720948.4:c.262-55C>T	XP_006721011.1:n.262-55C>T
NM_024589.3:c.532-55C>T MANE Select	NP_078865.1:n.532-55C>T
NR_046480.2:n.539-55C>T