Canonical Allele Identifier: CA394649686

Gene: ROGDI

Linked Data

• dbSNP Id: rs1187094787
• gnomAD v2: 16-4847984-A-G
• gnomAD v3: 16-4797983-A-G
• gnomAD v4: 16-4797983-A-G
• MyVariant Identifiers: chr16:g.4847984A>G (hg19) ; chr16:g.4797983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4797983A>G , CM000678.2:g.4797983A>G	GRCh38
NC_000016.9:g.4847984A>G , CM000678.1:g.4847984A>G	GRCh37
NC_000016.8:g.4787985A>G	NCBI36
NG_032174.1:g.9968T>C , LRG_455:g.9968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.650T>C MANE Select	ENSP00000322832.6:p.Phe217Ser
ENST00000322048.11:c.650T>C	ENSP00000322832.5:p.Phe217Ser
ENST00000586153.1:c.296T>C	ENSP00000464699.1:p.Phe99Ser
ENST00000586336.5:n.749T>C
ENST00000586504.5:c.425+88T>C
ENST00000587377.5:c.663T>C	ENSP00000468343.1:p.Leu221=
ENST00000587711.5:c.335T>C	ENSP00000467459.1:p.Phe112Ser
ENST00000587843.5:c.*388T>C	ENSP00000465970.1:n.*388T>C
ENST00000588201.5:c.*641T>C	ENSP00000466529.1:n.*641T>C
ENST00000589543.5:n.607T>C
ENST00000591292.5:n.1979T>C
ENST00000591392.5:c.578T>C	ENSP00000467509.1:p.Phe193Ser
ENST00000592019.1:c.77-168T>C
NM_024589.2:c.650T>C , LRG_455t1:c.650T>C	NP_078865.1:p.Phe217Ser
NR_046480.1:n.974T>C
XM_006720947.2:c.650T>C	XP_006721010.1:p.Phe217Ser
XM_006720948.2:c.380T>C	XP_006721011.1:p.Phe127Ser
XM_006720947.4:c.650T>C	XP_006721010.1:p.Phe217Ser
XM_006720948.4:c.380T>C	XP_006721011.1:p.Phe127Ser
NM_024589.3:c.650T>C MANE Select	NP_078865.1:p.Phe217Ser
NR_046480.2:n.657T>C