Canonical Allele Identifier: CA10652264

Gene: GCDH

Linked Data

• ClinVar Variation Id: 328331
• ClinVar RCV Id: RCV000665806 ; RCV002282120
• dbSNP Id: rs886054243
• gnomAD v2: 19-13007240-G-A
• gnomAD v3: 19-12896426-G-A
• gnomAD v4: 19-12896426-G-A
• MyVariant Identifiers: chr19:g.13007240G>A (hg19) ; chr19:g.12896426G>A (hg38)
• PubMed: PMID:18683078

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896426G>A , CM000681.2:g.12896426G>A	GRCh38
NC_000019.9:g.13007240G>A , CM000681.1:g.13007240G>A	GRCh37
NC_000019.8:g.12868240G>A	NCBI36
NG_009292.1:g.10267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.852+5G>A MANE Select	ENSP00000222214.4:n.852+5G>A
ENST00000222214.9:c.852+5G>A	ENSP00000222214.4:n.852+5G>A
ENST00000421816.6:n.830+5G>A
ENST00000585420.5:n.1182+5G>A
ENST00000590530.5:c.*292+5G>A	ENSP00000468452.1:n.*292+5G>A
ENST00000591043.1:n.888+5G>A
ENST00000591470.5:c.852+5G>A	ENSP00000466845.1:n.852+5G>A
NM_000159.3:c.852+5G>A	NP_000150.1:n.852+5G>A
NM_013976.3:c.852+5G>A	NP_039663.1:n.852+5G>A
NR_102316.1:n.1015+5G>A
NR_102317.1:n.1233+5G>A
XM_006722721.2:c.852+5G>A	XP_006722784.1:n.852+5G>A
XM_011527899.1:c.852+5G>A	XP_011526201.1:n.852+5G>A
XM_011527900.1:c.852+5G>A	XP_011526202.1:n.852+5G>A
XM_011527899.2:c.852+5G>A	XP_011526201.1:n.852+5G>A
XM_011527900.2:c.852+5G>A	XP_011526202.1:n.852+5G>A
XM_017026580.1:c.852+5G>A	XP_016882069.1:n.852+5G>A
NM_000159.4:c.852+5G>A MANE Select	NP_000150.1:n.852+5G>A
NM_013976.4:c.852+5G>A	NP_039663.1:n.852+5G>A
NM_013976.5:c.852+5G>A	NP_039663.1:n.852+5G>A