Canonical Allele Identifier: CA2631549964

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797852-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797852G>A , CM000678.2:g.4797852G>A	GRCh38
NC_000016.9:g.4847853G>A , CM000678.1:g.4847853G>A	GRCh37
NC_000016.8:g.4787854G>A	NCBI36
NG_032174.1:g.10099C>T , LRG_455:g.10099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.696-12C>T MANE Select	ENSP00000322832.6:n.696-12C>T
ENST00000322048.11:c.696-12C>T	ENSP00000322832.5:n.696-12C>T
ENST00000586153.1:c.342-16C>T	ENSP00000464699.1:n.342-16C>T
ENST00000586336.5:n.795-12C>T
ENST00000586504.5:c.426-12C>T
ENST00000587377.5:c.*16-12C>T	ENSP00000468343.1:n.*16-12C>T
ENST00000587711.5:c.381-12C>T	ENSP00000467459.1:n.381-12C>T
ENST00000587843.5:c.*434-12C>T	ENSP00000465970.1:n.*434-12C>T
ENST00000588201.5:c.*687-12C>T	ENSP00000466529.1:n.*687-12C>T
ENST00000589543.5:n.653-12C>T
ENST00000591292.5:n.2025-12C>T
ENST00000591392.5:c.624-12C>T	ENSP00000467509.1:n.624-12C>T
ENST00000592019.1:c.77-37C>T
NM_024589.2:c.696-12C>T , LRG_455t1:c.696-12C>T	NP_078865.1:n.696-12C>T
NR_046480.1:n.1020-12C>T
XM_006720947.2:c.705C>T	XP_006721010.1:p.Leu235=
XM_006720948.2:c.435C>T	XP_006721011.1:p.Leu145=
XM_006720947.4:c.705C>T	XP_006721010.1:p.Leu235=
XM_006720948.4:c.435C>T	XP_006721011.1:p.Leu145=
NM_024589.3:c.696-12C>T MANE Select	NP_078865.1:n.696-12C>T
NR_046480.2:n.703-12C>T