Canonical Allele Identifier: CA2631551041
Gene: ROGDI HGNC NCBI

Linked Data

gnomAD v4: 16-4798241-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4798241G>T , CM000678.2:g.4798241G>T GRCh38
NC_000016.9:g.4848242G>T , CM000678.1:g.4848242G>T GRCh37
NC_000016.8:g.4788243G>T NCBI36
NG_032174.1:g.9710C>A , LRG_455:g.9710C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322048.12:c.532-57C>A MANE Select ENSP00000322832.6:n.532-57C>A
ENST00000322048.11:c.532-57C>A ENSP00000322832.5:n.532-57C>A
ENST00000586153.1:c.178-57C>A ENSP00000464699.1:n.178-57C>A
ENST00000586336.5:n.631-57C>A
ENST00000586504.5:c.312-57C>A
ENST00000587377.5:c.545-57C>A ENSP00000468343.1:n.545-57C>A
ENST00000587711.5:c.217-57C>A ENSP00000467459.1:n.217-57C>A
ENST00000587843.5:c.*270-57C>A ENSP00000465970.1:n.*270-57C>A
ENST00000588201.5:c.*523-57C>A ENSP00000466529.1:n.*523-57C>A
ENST00000589543.5:n.489-57C>A
ENST00000591292.5:n.1861-57C>A
ENST00000591392.5:c.460-57C>A ENSP00000467509.1:n.460-57C>A
ENST00000592019.1:c.77-426C>A
NM_024589.2:c.532-57C>A , LRG_455t1:c.532-57C>A NP_078865.1:n.532-57C>A
NR_046480.1:n.856-57C>A
XM_006720947.2:c.532-57C>A XP_006721010.1:n.532-57C>A
XM_006720948.2:c.262-57C>A XP_006721011.1:n.262-57C>A
XM_006720947.4:c.532-57C>A XP_006721010.1:n.532-57C>A
XM_006720948.4:c.262-57C>A XP_006721011.1:n.262-57C>A
NM_024589.3:c.532-57C>A MANE Select NP_078865.1:n.532-57C>A
NR_046480.2:n.539-57C>A