Canonical Allele Identifier: CA7882786

Gene: ROGDI

Linked Data

• dbSNP Id: rs76525419
• ExAC: 16:4849832 G / A
• gnomAD v2: 16-4849832-G-A
• gnomAD v3: 16-4799831-G-A
• gnomAD v4: 16-4799831-G-A
• MyVariant Identifiers: chr16:g.4849832G>A (hg19) ; chr16:g.4799831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799831G>A , CM000678.2:g.4799831G>A	GRCh38
NC_000016.9:g.4849832G>A , CM000678.1:g.4849832G>A	GRCh37
NC_000016.8:g.4789833G>A	NCBI36
NG_032174.1:g.8120C>T , LRG_455:g.8120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.337-50C>T MANE Select	ENSP00000322832.6:n.337-50C>T
ENST00000322048.11:c.337-50C>T	ENSP00000322832.5:n.337-50C>T
ENST00000585653.1:n.469-50C>T
ENST00000586153.1:c.82-50C>T	ENSP00000464699.1:n.82-50C>T
ENST00000586336.5:n.436-50C>T
ENST00000586504.5:c.117-50C>T
ENST00000587377.5:c.337-50C>T	ENSP00000468343.1:n.337-50C>T
ENST00000587711.5:c.118-1164C>T	ENSP00000467459.1:n.118-1164C>T
ENST00000587843.5:c.*75-50C>T	ENSP00000465970.1:n.*75-50C>T
ENST00000588201.5:c.*194-50C>T	ENSP00000466529.1:n.*194-50C>T
ENST00000589543.5:n.294-50C>T
ENST00000591292.5:n.1666-50C>T
ENST00000591392.5:c.265-50C>T	ENSP00000467509.1:n.265-50C>T
ENST00000592019.1:c.56-50C>T
NM_024589.2:c.337-50C>T , LRG_455t1:c.337-50C>T	NP_078865.1:n.337-50C>T
NR_046480.1:n.661-50C>T
XM_006720947.2:c.337-50C>T	XP_006721010.1:n.337-50C>T
XM_006720948.2:c.67-50C>T	XP_006721011.1:n.67-50C>T
XM_006720947.4:c.337-50C>T	XP_006721010.1:n.337-50C>T
XM_006720948.4:c.67-50C>T	XP_006721011.1:n.67-50C>T
NM_024589.3:c.337-50C>T MANE Select	NP_078865.1:n.337-50C>T
NR_046480.2:n.344-50C>T