Canonical Allele Identifier: CA394653322

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4799724-G-A
• MyVariant Identifiers: chr16:g.4849725G>A (hg19) ; chr16:g.4799724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799724G>A , CM000678.2:g.4799724G>A	GRCh38
NC_000016.9:g.4849725G>A , CM000678.1:g.4849725G>A	GRCh37
NC_000016.8:g.4789726G>A	NCBI36
NG_032174.1:g.8227C>T , LRG_455:g.8227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.394C>T MANE Select	ENSP00000322832.6:p.Gln132Ter
ENST00000322048.11:c.394C>T	ENSP00000322832.5:p.Gln132Ter
ENST00000585653.1:n.526C>T
ENST00000586153.1:c.139C>T	ENSP00000464699.1:p.Gln47Ter
ENST00000586336.5:n.493C>T
ENST00000586504.5:c.174C>T
ENST00000587377.5:c.394C>T	ENSP00000468343.1:p.Gln132Ter
ENST00000587711.5:c.118-1057C>T	ENSP00000467459.1:n.118-1057C>T
ENST00000587843.5:c.*132C>T	ENSP00000465970.1:n.*132C>T
ENST00000588201.5:c.*251C>T	ENSP00000466529.1:n.*251C>T
ENST00000589543.5:n.351C>T
ENST00000591292.5:n.1723C>T
ENST00000591392.5:c.322C>T	ENSP00000467509.1:p.Gln108Ter
ENST00000592019.1:c.76+37C>T
NM_024589.2:c.394C>T , LRG_455t1:c.394C>T	NP_078865.1:p.Gln132Ter
NR_046480.1:n.718C>T
XM_006720947.2:c.394C>T	XP_006721010.1:p.Gln132Ter
XM_006720948.2:c.124C>T	XP_006721011.1:p.Gln42Ter
XM_006720947.4:c.394C>T	XP_006721010.1:p.Gln132Ter
XM_006720948.4:c.124C>T	XP_006721011.1:p.Gln42Ter
NM_024589.3:c.394C>T MANE Select	NP_078865.1:p.Gln132Ter
NR_046480.2:n.401C>T