Canonical Allele Identifier: CA10637834
Gene: ROGDI HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.4797316C>T
GRCh37 chr16:g.4847317C>T
gnomAD v2:
16:4847317 C / T
gnomAD v3:
16:4797316 C / T
gnomAD v4:
chr16-4797316-C-T
Joint Max Group AF 0.51446945 (AMR)
Genomes Max Group AF 0.49788813 (AMR)
Exomes Max Group AF 0.52336183 (AMR)
ClinVar Allele:
325480
ClinVar RCV:
RCV000310283
RCV001642993
ClinVar Variation:
319396
dbSNP:
7546
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4797316C>T , CM000678.2:g.4797316C>T GRCh38
NC_000016.9:g.4847317C>T , CM000678.1:g.4847317C>T GRCh37
NC_000016.8:g.4787318C>T NCBI36
NG_032174.1:g.10635G>A , LRG_455:g.10635G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.*144G>A MANE Select ENSP00000322832.6:n.*144G>A
ENST00000322048.11:c.*144G>A ENSP00000322832.5:n.*144G>A
ENST00000587377.5:c.*328G>A ENSP00000468343.1:n.*328G>A
ENST00000587843.5:c.*746G>A ENSP00000465970.1:n.*746G>A
ENST00000588201.5:c.*999G>A ENSP00000466529.1:n.*999G>A
ENST00000591292.5:n.2337G>A
ENST00000592019.1:c.364G>A
NM_024589.2:c.*144G>A , LRG_455t1:c.*144G>A NP_078865.1:n.*144G>A
NR_046480.1:n.1332G>A
XM_006720947.2:c.*144G>A XP_006721010.1:n.*144G>A
XM_006720948.2:c.*144G>A XP_006721011.1:n.*144G>A
XM_006720947.4:c.*144G>A XP_006721010.1:n.*144G>A
XM_006720948.4:c.*144G>A XP_006721011.1:n.*144G>A
NM_024589.3:c.*144G>A MANE Select NP_078865.1:n.*144G>A
NR_046480.2:n.1015G>A
Search 100 bp 5'
Search 100 bp 3'