Canonical Allele Identifier: CA394653691

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 461607
• ClinVar RCV Id: RCV000534528
• dbSNP Id: rs1555491350
• MyVariant Identifiers: chr16:g.4849779G>A (hg19) ; chr16:g.4799778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799778G>A , CM000678.2:g.4799778G>A	GRCh38
NC_000016.9:g.4849779G>A , CM000678.1:g.4849779G>A	GRCh37
NC_000016.8:g.4789780G>A	NCBI36
NG_032174.1:g.8173C>T , LRG_455:g.8173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.340C>T MANE Select	ENSP00000322832.6:p.Gln114Ter
ENST00000322048.11:c.340C>T	ENSP00000322832.5:p.Gln114Ter
ENST00000585653.1:n.472C>T
ENST00000586153.1:c.85C>T	ENSP00000464699.1:p.Gln29Ter
ENST00000586336.5:n.439C>T
ENST00000586504.5:c.120C>T
ENST00000587377.5:c.340C>T	ENSP00000468343.1:p.Gln114Ter
ENST00000587711.5:c.118-1111C>T	ENSP00000467459.1:n.118-1111C>T
ENST00000587843.5:c.*78C>T	ENSP00000465970.1:n.*78C>T
ENST00000588201.5:c.*197C>T	ENSP00000466529.1:n.*197C>T
ENST00000589543.5:n.297C>T
ENST00000591292.5:n.1669C>T
ENST00000591392.5:c.268C>T	ENSP00000467509.1:p.Gln90Ter
ENST00000592019.1:c.59C>T
NM_024589.2:c.340C>T , LRG_455t1:c.340C>T	NP_078865.1:p.Gln114Ter
NR_046480.1:n.664C>T
XM_006720947.2:c.340C>T	XP_006721010.1:p.Gln114Ter
XM_006720948.2:c.70C>T	XP_006721011.1:p.Gln24Ter
XM_006720947.4:c.340C>T	XP_006721010.1:p.Gln114Ter
XM_006720948.4:c.70C>T	XP_006721011.1:p.Gln24Ter
NM_024589.3:c.340C>T MANE Select	NP_078865.1:p.Gln114Ter
NR_046480.2:n.347C>T