Canonical Allele Identifier: CA7882595

Gene: ROGDI

Linked Data

• dbSNP Id: rs566626071
• ExAC: 16:4848036 T / A
• gnomAD v2: 16-4848036-T-A
• gnomAD v4: 16-4798035-T-A
• MyVariant Identifiers: chr16:g.4848036T>A (hg19) ; chr16:g.4798035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798035T>A , CM000678.2:g.4798035T>A	GRCh38
NC_000016.9:g.4848036T>A , CM000678.1:g.4848036T>A	GRCh37
NC_000016.8:g.4788037T>A	NCBI36
NG_032174.1:g.9916A>T , LRG_455:g.9916A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.645+36A>T MANE Select	ENSP00000322832.6:n.645+36A>T
ENST00000322048.11:c.645+36A>T	ENSP00000322832.5:n.645+36A>T
ENST00000586153.1:c.291+36A>T	ENSP00000464699.1:n.291+36A>T
ENST00000586336.5:n.744+36A>T
ENST00000586504.5:c.425+36A>T
ENST00000587377.5:c.658+36A>T	ENSP00000468343.1:n.658+36A>T
ENST00000587711.5:c.330+36A>T	ENSP00000467459.1:n.330+36A>T
ENST00000587843.5:c.*383+36A>T	ENSP00000465970.1:n.*383+36A>T
ENST00000588201.5:c.*636+36A>T	ENSP00000466529.1:n.*636+36A>T
ENST00000589543.5:n.602+36A>T
ENST00000591292.5:n.1974+36A>T
ENST00000591392.5:c.573+36A>T	ENSP00000467509.1:n.573+36A>T
ENST00000592019.1:c.77-220A>T
NM_024589.2:c.645+36A>T , LRG_455t1:c.645+36A>T	NP_078865.1:n.645+36A>T
NR_046480.1:n.969+36A>T
XM_006720947.2:c.645+36A>T	XP_006721010.1:n.645+36A>T
XM_006720948.2:c.375+36A>T	XP_006721011.1:n.375+36A>T
XM_006720947.4:c.645+36A>T	XP_006721010.1:n.645+36A>T
XM_006720948.4:c.375+36A>T	XP_006721011.1:n.375+36A>T
NM_024589.3:c.645+36A>T MANE Select	NP_078865.1:n.645+36A>T
NR_046480.2:n.652+36A>T