Canonical Allele Identifier: CA274254

Gene: GCDH

Linked Data

• ClinVar Variation Id: 189012
• ClinVar RCV Id: RCV000169399
• dbSNP Id: rs786204627
• MyVariant Identifiers: chr19:g.13006833G>A (hg19) ; chr19:g.12896019G>A (hg38)
• PubMed: PMID:8900227 ; PMID:20960650 ; PMID:23104440 ; PMID:24332224

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896019G>A , CM000681.2:g.12896019G>A	GRCh38
NC_000019.9:g.13006833G>A , CM000681.1:g.13006833G>A	GRCh37
NC_000019.8:g.12867833G>A	NCBI36
NG_009292.1:g.9860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.533G>A MANE Select	ENSP00000222214.4:p.Gly178Glu
ENST00000222214.9:c.533G>A	ENSP00000222214.4:p.Gly178Glu
ENST00000421816.6:n.511G>A
ENST00000585420.5:n.898G>A
ENST00000590530.5:c.588G>A	ENSP00000468452.1:p.Arg196=
ENST00000591043.1:n.569G>A
ENST00000591470.5:c.533G>A	ENSP00000466845.1:p.Gly178Glu
NM_000159.3:c.533G>A	NP_000150.1:p.Gly178Glu
NM_013976.3:c.533G>A	NP_039663.1:p.Gly178Glu
NR_102316.1:n.696G>A
NR_102317.1:n.949G>A
XM_006722721.2:c.533G>A	XP_006722784.1:p.Gly178Glu
XM_011527899.1:c.533G>A	XP_011526201.1:p.Gly178Glu
XM_011527900.1:c.533G>A	XP_011526202.1:p.Gly178Glu
XM_011527899.2:c.533G>A	XP_011526201.1:p.Gly178Glu
XM_011527900.2:c.533G>A	XP_011526202.1:p.Gly178Glu
XM_017026580.1:c.533G>A	XP_016882069.1:p.Gly178Glu
NM_000159.4:c.533G>A MANE Select	NP_000150.1:p.Gly178Glu
NM_013976.4:c.533G>A	NP_039663.1:p.Gly178Glu
NM_013976.5:c.533G>A	NP_039663.1:p.Gly178Glu