Canonical Allele Identifier: CA493404966

Gene: ROGDI

Linked Data

• gnomAD v4: 16-4797943-G-A
• MyVariant Identifiers: chr16:g.4847944G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797943G>A , CM000678.2:g.4797943G>A	GRCh38
NC_000016.9:g.4847944G>A , CM000678.1:g.4847944G>A	GRCh37
NC_000016.8:g.4787945G>A	NCBI36
NG_032174.1:g.10008C>T , LRG_455:g.10008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.690C>T MANE Select	ENSP00000322832.6:p.Ala230=
ENST00000322048.11:c.690C>T	ENSP00000322832.5:p.Ala230=
ENST00000586153.1:c.336C>T	ENSP00000464699.1:p.Ala112=
ENST00000586336.5:n.789C>T
ENST00000586504.5:c.426-103C>T
ENST00000587377.5:c.*10C>T	ENSP00000468343.1:n.*10C>T
ENST00000587711.5:c.375C>T	ENSP00000467459.1:p.Ala125=
ENST00000587843.5:c.*428C>T	ENSP00000465970.1:n.*428C>T
ENST00000588201.5:c.*681C>T	ENSP00000466529.1:n.*681C>T
ENST00000589543.5:n.647C>T
ENST00000591292.5:n.2019C>T
ENST00000591392.5:c.618C>T	ENSP00000467509.1:p.Ala206=
ENST00000592019.1:c.77-128C>T
NM_024589.2:c.690C>T , LRG_455t1:c.690C>T	NP_078865.1:p.Ala230=
NR_046480.1:n.1014C>T
XM_006720947.2:c.690C>T	XP_006721010.1:p.Ala230=
XM_006720948.2:c.420C>T	XP_006721011.1:p.Ala140=
XM_006720947.4:c.690C>T	XP_006721010.1:p.Ala230=
XM_006720948.4:c.420C>T	XP_006721011.1:p.Ala140=
NM_024589.3:c.690C>T MANE Select	NP_078865.1:p.Ala230=
NR_046480.2:n.697C>T