Canonical Allele Identifier: CA394653508

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849753T>G (hg19) ; chr16:g.4799752T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799752T>G , CM000678.2:g.4799752T>G	GRCh38
NC_000016.9:g.4849753T>G , CM000678.1:g.4849753T>G	GRCh37
NC_000016.8:g.4789754T>G	NCBI36
NG_032174.1:g.8199A>C , LRG_455:g.8199A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.366A>C MANE Select	ENSP00000322832.6:p.Gln122His
ENST00000322048.11:c.366A>C	ENSP00000322832.5:p.Gln122His
ENST00000585653.1:n.498A>C
ENST00000586153.1:c.111A>C	ENSP00000464699.1:p.Gln37His
ENST00000586336.5:n.465A>C
ENST00000586504.5:c.146A>C
ENST00000587377.5:c.366A>C	ENSP00000468343.1:p.Gln122His
ENST00000587711.5:c.118-1085A>C	ENSP00000467459.1:n.118-1085A>C
ENST00000587843.5:c.*104A>C	ENSP00000465970.1:n.*104A>C
ENST00000588201.5:c.*223A>C	ENSP00000466529.1:n.*223A>C
ENST00000589543.5:n.323A>C
ENST00000591292.5:n.1695A>C
ENST00000591392.5:c.294A>C	ENSP00000467509.1:p.Gln98His
ENST00000592019.1:c.76+9A>C
NM_024589.2:c.366A>C , LRG_455t1:c.366A>C	NP_078865.1:p.Gln122His
NR_046480.1:n.690A>C
XM_006720947.2:c.366A>C	XP_006721010.1:p.Gln122His
XM_006720948.2:c.96A>C	XP_006721011.1:p.Gln32His
XM_006720947.4:c.366A>C	XP_006721010.1:p.Gln122His
XM_006720948.4:c.96A>C	XP_006721011.1:p.Gln32His
NM_024589.3:c.366A>C MANE Select	NP_078865.1:p.Gln122His
NR_046480.2:n.373A>C