Canonical Allele Identifier: CA16608038

Gene: GCDH

Linked Data

• ClinVar Variation Id: 377917
• ClinVar RCV Id: RCV000444441 ; RCV000553882
• dbSNP Id: rs200639270
• gnomAD v3: 19-12893543-G-A
• gnomAD v4: 19-12893543-G-A
• COSMIC: COSM474203 ; COSM1136110
• MyVariant Identifiers: chr19:g.13004357G>A (hg19) ; chr19:g.12893543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893543G>A , CM000681.2:g.12893543G>A	GRCh38
NC_000019.9:g.13004357G>A , CM000681.1:g.13004357G>A	GRCh37
NC_000019.8:g.12865357G>A	NCBI36
NG_009292.1:g.7384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.395G>A MANE Select	ENSP00000222214.4:p.Arg132Gln
ENST00000222214.9:c.395G>A	ENSP00000222214.4:p.Arg132Gln
ENST00000421816.6:n.373G>A
ENST00000585420.5:n.760G>A
ENST00000587832.5:n.452G>A
ENST00000588905.5:c.359G>A	ENSP00000465770.1:p.Arg120Gln
ENST00000589039.5:c.332G>A	ENSP00000465618.1:p.Arg111Gln
ENST00000590530.5:c.450G>A	ENSP00000468452.1:p.Ala150=
ENST00000590627.5:n.760G>A
ENST00000591043.1:n.431G>A
ENST00000591470.5:c.395G>A	ENSP00000466845.1:p.Arg132Gln
NM_000159.3:c.395G>A	NP_000150.1:p.Arg132Gln
NM_013976.3:c.395G>A	NP_039663.1:p.Arg132Gln
NR_102316.1:n.558G>A
NR_102317.1:n.811G>A
XM_006722721.2:c.395G>A	XP_006722784.1:p.Arg132Gln
XM_011527899.1:c.395G>A	XP_011526201.1:p.Arg132Gln
XM_011527900.1:c.395G>A	XP_011526202.1:p.Arg132Gln
XM_011527899.2:c.395G>A	XP_011526201.1:p.Arg132Gln
XM_011527900.2:c.395G>A	XP_011526202.1:p.Arg132Gln
XM_017026580.1:c.395G>A	XP_016882069.1:p.Arg132Gln
NM_000159.4:c.395G>A MANE Select	NP_000150.1:p.Arg132Gln
NM_013976.4:c.395G>A	NP_039663.1:p.Arg132Gln
NM_013976.5:c.395G>A	NP_039663.1:p.Arg132Gln