Canonical Allele Identifier: CA394653669

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849776C>G (hg19) ; chr16:g.4799775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799775C>G , CM000678.2:g.4799775C>G	GRCh38
NC_000016.9:g.4849776C>G , CM000678.1:g.4849776C>G	GRCh37
NC_000016.8:g.4789777C>G	NCBI36
NG_032174.1:g.8176G>C , LRG_455:g.8176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.343G>C MANE Select	ENSP00000322832.6:p.Asp115His
ENST00000322048.11:c.343G>C	ENSP00000322832.5:p.Asp115His
ENST00000585653.1:n.475G>C
ENST00000586153.1:c.88G>C	ENSP00000464699.1:p.Asp30His
ENST00000586336.5:n.442G>C
ENST00000586504.5:c.123G>C
ENST00000587377.5:c.343G>C	ENSP00000468343.1:p.Asp115His
ENST00000587711.5:c.118-1108G>C	ENSP00000467459.1:n.118-1108G>C
ENST00000587843.5:c.*81G>C	ENSP00000465970.1:n.*81G>C
ENST00000588201.5:c.*200G>C	ENSP00000466529.1:n.*200G>C
ENST00000589543.5:n.300G>C
ENST00000591292.5:n.1672G>C
ENST00000591392.5:c.271G>C	ENSP00000467509.1:p.Asp91His
ENST00000592019.1:c.62G>C
NM_024589.2:c.343G>C , LRG_455t1:c.343G>C	NP_078865.1:p.Asp115His
NR_046480.1:n.667G>C
XM_006720947.2:c.343G>C	XP_006721010.1:p.Asp115His
XM_006720948.2:c.73G>C	XP_006721011.1:p.Asp25His
XM_006720947.4:c.343G>C	XP_006721010.1:p.Asp115His
XM_006720948.4:c.73G>C	XP_006721011.1:p.Asp25His
NM_024589.3:c.343G>C MANE Select	NP_078865.1:p.Asp115His
NR_046480.2:n.350G>C