Canonical Allele Identifier: CA721102348

Gene: ROGDI

Linked Data

• dbSNP Id: rs1447181264
• gnomAD v3: 16-4799798-T-G
• gnomAD v4: 16-4799798-T-G
• MyVariant Identifiers: chr16:g.4849799T>G (hg19) ; chr16:g.4799798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799798T>G , CM000678.2:g.4799798T>G	GRCh38
NC_000016.9:g.4849799T>G , CM000678.1:g.4849799T>G	GRCh37
NC_000016.8:g.4789800T>G	NCBI36
NG_032174.1:g.8153A>C , LRG_455:g.8153A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.337-17A>C MANE Select	ENSP00000322832.6:n.337-17A>C
ENST00000322048.11:c.337-17A>C	ENSP00000322832.5:n.337-17A>C
ENST00000585653.1:n.469-17A>C
ENST00000586153.1:c.82-17A>C	ENSP00000464699.1:n.82-17A>C
ENST00000586336.5:n.436-17A>C
ENST00000586504.5:c.117-17A>C
ENST00000587377.5:c.337-17A>C	ENSP00000468343.1:n.337-17A>C
ENST00000587711.5:c.118-1131A>C	ENSP00000467459.1:n.118-1131A>C
ENST00000587843.5:c.*75-17A>C	ENSP00000465970.1:n.*75-17A>C
ENST00000588201.5:c.*194-17A>C	ENSP00000466529.1:n.*194-17A>C
ENST00000589543.5:n.294-17A>C
ENST00000591292.5:n.1666-17A>C
ENST00000591392.5:c.265-17A>C	ENSP00000467509.1:n.265-17A>C
ENST00000592019.1:c.56-17A>C
NM_024589.2:c.337-17A>C , LRG_455t1:c.337-17A>C	NP_078865.1:n.337-17A>C
NR_046480.1:n.661-17A>C
XM_006720947.2:c.337-17A>C	XP_006721010.1:n.337-17A>C
XM_006720948.2:c.67-17A>C	XP_006721011.1:n.67-17A>C
XM_006720947.4:c.337-17A>C	XP_006721010.1:n.337-17A>C
XM_006720948.4:c.67-17A>C	XP_006721011.1:n.67-17A>C
NM_024589.3:c.337-17A>C MANE Select	NP_078865.1:n.337-17A>C
NR_046480.2:n.344-17A>C