Canonical Allele Identifier: CA394653375

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4849734T>C (hg19) ; chr16:g.4799733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799733T>C , CM000678.2:g.4799733T>C	GRCh38
NC_000016.9:g.4849734T>C , CM000678.1:g.4849734T>C	GRCh37
NC_000016.8:g.4789735T>C	NCBI36
NG_032174.1:g.8218A>G , LRG_455:g.8218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.385A>G MANE Select	ENSP00000322832.6:p.Ser129Gly
ENST00000322048.11:c.385A>G	ENSP00000322832.5:p.Ser129Gly
ENST00000585653.1:n.517A>G
ENST00000586153.1:c.130A>G	ENSP00000464699.1:p.Ser44Gly
ENST00000586336.5:n.484A>G
ENST00000586504.5:c.165A>G
ENST00000587377.5:c.385A>G	ENSP00000468343.1:p.Ser129Gly
ENST00000587711.5:c.118-1066A>G	ENSP00000467459.1:n.118-1066A>G
ENST00000587843.5:c.*123A>G	ENSP00000465970.1:n.*123A>G
ENST00000588201.5:c.*242A>G	ENSP00000466529.1:n.*242A>G
ENST00000589543.5:n.342A>G
ENST00000591292.5:n.1714A>G
ENST00000591392.5:c.313A>G	ENSP00000467509.1:p.Ser105Gly
ENST00000592019.1:c.76+28A>G
NM_024589.2:c.385A>G , LRG_455t1:c.385A>G	NP_078865.1:p.Ser129Gly
NR_046480.1:n.709A>G
XM_006720947.2:c.385A>G	XP_006721010.1:p.Ser129Gly
XM_006720948.2:c.115A>G	XP_006721011.1:p.Ser39Gly
XM_006720947.4:c.385A>G	XP_006721010.1:p.Ser129Gly
XM_006720948.4:c.115A>G	XP_006721011.1:p.Ser39Gly
NM_024589.3:c.385A>G MANE Select	NP_078865.1:p.Ser129Gly
NR_046480.2:n.392A>G