Canonical Allele Identifier: CA367404488

Gene: OGDH

Linked Data

• ClinVar Variation Id: 1993762
• ClinVar RCV Id: RCV002806347
• MyVariant Identifiers: chr7:g.44736073C>G (hg19) ; chr7:g.44696474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44696474C>G , CM000669.2:g.44696474C>G	GRCh38
NC_000007.13:g.44736073C>G , CM000669.1:g.44736073C>G	GRCh37
NC_000007.12:g.44702598C>G	NCBI36
NG_023260.1:g.94953C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447398.6:c.1850C>G	ENSP00000388183.1:p.Ser617Cys
ENST00000222673.6:c.1817C>G MANE Select	ENSP00000222673.5:p.Ser606Cys
ENST00000222673.5:c.1817C>G	ENSP00000222673.5:p.Ser606Cys
ENST00000439616.6:c.1367C>G	ENSP00000398576.2:p.Ser456Cys
ENST00000444676.5:c.1862C>G	ENSP00000414662.1:p.Ser621Cys
ENST00000447398.5:c.1850C>G	ENSP00000388183.1:p.Ser617Cys
ENST00000449767.5:c.1805C>G	ENSP00000392878.1:p.Ser602Cys
ENST00000631326.2:c.1817C>G	ENSP00000486854.1:p.Ser606Cys
NM_001165036.1:c.1805C>G	NP_001158508.1:p.Ser602Cys
NM_002541.3:c.1817C>G	NP_002532.2:p.Ser606Cys
XM_005249759.3:c.1862C>G	XP_005249816.1:p.Ser621Cys
XM_005249761.2:c.1850C>G	XP_005249818.1:p.Ser617Cys
XM_011515408.1:c.1862C>G	XP_011513710.1:p.Ser621Cys
NM_001363523.1:c.1850C>G	NP_001350452.1:p.Ser617Cys
XM_005249759.5:c.1862C>G	XP_005249816.1:p.Ser621Cys
XM_011515408.2:c.1862C>G	XP_011513710.1:p.Ser621Cys
XM_024446783.1:c.1202C>G	XP_024302551.1:p.Ser401Cys
NM_002541.4:c.1817C>G MANE Select	NP_002532.2:p.Ser606Cys
NM_001165036.2:c.1805C>G	NP_001158508.1:p.Ser602Cys
NM_001363523.2:c.1850C>G	NP_001350452.1:p.Ser617Cys