Canonical Allele Identifier: CA7882761

Gene: ROGDI

Linked Data

• dbSNP Id: rs746859932
• ExAC: 16:4849732 G / A
• MyVariant Identifiers: chr16:g.4849732G>A (hg19) ; chr16:g.4799731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799731G>A , CM000678.2:g.4799731G>A	GRCh38
NC_000016.9:g.4849732G>A , CM000678.1:g.4849732G>A	GRCh37
NC_000016.8:g.4789733G>A	NCBI36
NG_032174.1:g.8220C>T , LRG_455:g.8220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.387C>T MANE Select	ENSP00000322832.6:p.Ser129=
ENST00000322048.11:c.387C>T	ENSP00000322832.5:p.Ser129=
ENST00000585653.1:n.519C>T
ENST00000586153.1:c.132C>T	ENSP00000464699.1:p.Ser44=
ENST00000586336.5:n.486C>T
ENST00000586504.5:c.167C>T
ENST00000587377.5:c.387C>T	ENSP00000468343.1:p.Ser129=
ENST00000587711.5:c.118-1064C>T	ENSP00000467459.1:n.118-1064C>T
ENST00000587843.5:c.*125C>T	ENSP00000465970.1:n.*125C>T
ENST00000588201.5:c.*244C>T	ENSP00000466529.1:n.*244C>T
ENST00000589543.5:n.344C>T
ENST00000591292.5:n.1716C>T
ENST00000591392.5:c.315C>T	ENSP00000467509.1:p.Ser105=
ENST00000592019.1:c.76+30C>T
NM_024589.2:c.387C>T , LRG_455t1:c.387C>T	NP_078865.1:p.Ser129=
NR_046480.1:n.711C>T
XM_006720947.2:c.387C>T	XP_006721010.1:p.Ser129=
XM_006720948.2:c.117C>T	XP_006721011.1:p.Ser39=
XM_006720947.4:c.387C>T	XP_006721010.1:p.Ser129=
XM_006720948.4:c.117C>T	XP_006721011.1:p.Ser39=
NM_024589.3:c.387C>T MANE Select	NP_078865.1:p.Ser129=
NR_046480.2:n.394C>T