Canonical Allele Identifier: CA493404940

Gene: ROGDI

Linked Data

• MyVariant Identifiers: chr16:g.4848162C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798161C>A , CM000678.2:g.4798161C>A	GRCh38
NC_000016.9:g.4848162C>A , CM000678.1:g.4848162C>A	GRCh37
NC_000016.8:g.4788163C>A	NCBI36
NG_032174.1:g.9790G>T , LRG_455:g.9790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.555G>T MANE Select	ENSP00000322832.6:p.Pro185=
ENST00000322048.11:c.555G>T	ENSP00000322832.5:p.Pro185=
ENST00000586153.1:c.201G>T	ENSP00000464699.1:p.Pro67=
ENST00000586336.5:n.654G>T
ENST00000586504.5:c.335G>T
ENST00000587377.5:c.568G>T	ENSP00000468343.1:p.Val190Phe
ENST00000587711.5:c.240G>T	ENSP00000467459.1:p.Pro80=
ENST00000587843.5:c.*293G>T	ENSP00000465970.1:n.*293G>T
ENST00000588201.5:c.*546G>T	ENSP00000466529.1:n.*546G>T
ENST00000589543.5:n.512G>T
ENST00000591292.5:n.1884G>T
ENST00000591392.5:c.483G>T	ENSP00000467509.1:p.Pro161=
ENST00000592019.1:c.77-346G>T
NM_024589.2:c.555G>T , LRG_455t1:c.555G>T	NP_078865.1:p.Pro185=
NR_046480.1:n.879G>T
XM_006720947.2:c.555G>T	XP_006721010.1:p.Pro185=
XM_006720948.2:c.285G>T	XP_006721011.1:p.Pro95=
XM_006720947.4:c.555G>T	XP_006721010.1:p.Pro185=
XM_006720948.4:c.285G>T	XP_006721011.1:p.Pro95=
NM_024589.3:c.555G>T MANE Select	NP_078865.1:p.Pro185=
NR_046480.2:n.562G>T