Canonical Allele Identifier: CA277137902

Gene: ROGDI

Linked Data

• dbSNP Id: rs954463701
• gnomAD v3: 16-4799720-C-T
• gnomAD v4: 16-4799720-C-T
• MyVariant Identifiers: chr16:g.4849721C>T (hg19) ; chr16:g.4799720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799720C>T , CM000678.2:g.4799720C>T	GRCh38
NC_000016.9:g.4849721C>T , CM000678.1:g.4849721C>T	GRCh37
NC_000016.8:g.4789722C>T	NCBI36
NG_032174.1:g.8231G>A , LRG_455:g.8231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.398G>A MANE Select	ENSP00000322832.6:p.Ser133Asn
ENST00000322048.11:c.398G>A	ENSP00000322832.5:p.Ser133Asn
ENST00000585653.1:n.530G>A
ENST00000586153.1:c.143G>A	ENSP00000464699.1:p.Ser48Asn
ENST00000586336.5:n.497G>A
ENST00000586504.5:c.178G>A
ENST00000587377.5:c.398G>A	ENSP00000468343.1:p.Ser133Asn
ENST00000587711.5:c.118-1053G>A	ENSP00000467459.1:n.118-1053G>A
ENST00000587843.5:c.*136G>A	ENSP00000465970.1:n.*136G>A
ENST00000588201.5:c.*255G>A	ENSP00000466529.1:n.*255G>A
ENST00000589543.5:n.355G>A
ENST00000591292.5:n.1727G>A
ENST00000591392.5:c.326G>A	ENSP00000467509.1:p.Ser109Asn
ENST00000592019.1:c.76+41G>A
NM_024589.2:c.398G>A , LRG_455t1:c.398G>A	NP_078865.1:p.Ser133Asn
NR_046480.1:n.722G>A
XM_006720947.2:c.398G>A	XP_006721010.1:p.Ser133Asn
XM_006720948.2:c.128G>A	XP_006721011.1:p.Ser43Asn
XM_006720947.4:c.398G>A	XP_006721010.1:p.Ser133Asn
XM_006720948.4:c.128G>A	XP_006721011.1:p.Ser43Asn
NM_024589.3:c.398G>A MANE Select	NP_078865.1:p.Ser133Asn
NR_046480.2:n.405G>A