Canonical Allele Identifier: CA394653237

Gene: ROGDI

Linked Data

• dbSNP Id: rs770014799
• gnomAD v2: 16-4849708-C-G
• gnomAD v4: 16-4799707-C-G
• MyVariant Identifiers: chr16:g.4849708C>G (hg19) ; chr16:g.4799707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799707C>G , CM000678.2:g.4799707C>G	GRCh38
NC_000016.9:g.4849708C>G , CM000678.1:g.4849708C>G	GRCh37
NC_000016.8:g.4789709C>G	NCBI36
NG_032174.1:g.8244G>C , LRG_455:g.8244G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.411G>C MANE Select	ENSP00000322832.6:p.Lys137Asn
ENST00000322048.11:c.411G>C	ENSP00000322832.5:p.Lys137Asn
ENST00000585653.1:n.543G>C
ENST00000586153.1:c.156G>C	ENSP00000464699.1:p.Lys52Asn
ENST00000586336.5:n.510G>C
ENST00000586504.5:c.191G>C
ENST00000587377.5:c.411G>C	ENSP00000468343.1:p.Lys137Asn
ENST00000587711.5:c.118-1040G>C	ENSP00000467459.1:n.118-1040G>C
ENST00000587843.5:c.*149G>C	ENSP00000465970.1:n.*149G>C
ENST00000588201.5:c.*268G>C	ENSP00000466529.1:n.*268G>C
ENST00000589543.5:n.368G>C
ENST00000591292.5:n.1740G>C
ENST00000591392.5:c.339G>C	ENSP00000467509.1:p.Lys113Asn
ENST00000592019.1:c.76+54G>C
NM_024589.2:c.411G>C , LRG_455t1:c.411G>C	NP_078865.1:p.Lys137Asn
NR_046480.1:n.735G>C
XM_006720947.2:c.411G>C	XP_006721010.1:p.Lys137Asn
XM_006720948.2:c.141G>C	XP_006721011.1:p.Lys47Asn
XM_006720947.4:c.411G>C	XP_006721010.1:p.Lys137Asn
XM_006720948.4:c.141G>C	XP_006721011.1:p.Lys47Asn
NM_024589.3:c.411G>C MANE Select	NP_078865.1:p.Lys137Asn
NR_046480.2:n.418G>C