Canonical Allele Identifier: CA493404716

Gene: ROGDI

Linked Data

• dbSNP Id: rs143402543
• gnomAD v2: 16-4847965-C-A
• gnomAD v4: 16-4797964-C-A
• MyVariant Identifiers: chr16:g.4847965C>A (hg19) ; chr16:g.4797964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797964C>A , CM000678.2:g.4797964C>A	GRCh38
NC_000016.9:g.4847965C>A , CM000678.1:g.4847965C>A	GRCh37
NC_000016.8:g.4787966C>A	NCBI36
NG_032174.1:g.9987G>T , LRG_455:g.9987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.669G>T MANE Select	ENSP00000322832.6:p.Ala223=
ENST00000322048.11:c.669G>T	ENSP00000322832.5:p.Ala223=
ENST00000586153.1:c.315G>T	ENSP00000464699.1:p.Ala105=
ENST00000586336.5:n.768G>T
ENST00000586504.5:c.425+107G>T
ENST00000587377.5:c.682G>T	ENSP00000468343.1:p.Gly228Cys
ENST00000587711.5:c.354G>T	ENSP00000467459.1:p.Ala118=
ENST00000587843.5:c.*407G>T	ENSP00000465970.1:n.*407G>T
ENST00000588201.5:c.*660G>T	ENSP00000466529.1:n.*660G>T
ENST00000589543.5:n.626G>T
ENST00000591292.5:n.1998G>T
ENST00000591392.5:c.597G>T	ENSP00000467509.1:p.Ala199=
ENST00000592019.1:c.77-149G>T
NM_024589.2:c.669G>T , LRG_455t1:c.669G>T	NP_078865.1:p.Ala223=
NR_046480.1:n.993G>T
XM_006720947.2:c.669G>T	XP_006721010.1:p.Ala223=
XM_006720948.2:c.399G>T	XP_006721011.1:p.Ala133=
XM_006720947.4:c.669G>T	XP_006721010.1:p.Ala223=
XM_006720948.4:c.399G>T	XP_006721011.1:p.Ala133=
NM_024589.3:c.669G>T MANE Select	NP_078865.1:p.Ala223=
NR_046480.2:n.676G>T