Canonical Allele Identifier: CA9234539

Gene: GCDH

Linked Data

• ClinVar Variation Id: 429706
• ClinVar RCV Id: RCV000494627 ; RCV000587206
• dbSNP Id: rs761765983
• ExAC: 19:13007763 G / A
• gnomAD v2: 19-13007763-G-A
• gnomAD v3: 19-12896949-G-A
• gnomAD v4: 19-12896949-G-A
• COSMIC: COSM1658971 ; COSM1658972
• MyVariant Identifiers: chr19:g.13007763G>A (hg19) ; chr19:g.12896949G>A (hg38)
• PubMed: PMID:9711871 ; PMID:11058907 ; PMID:15505393 ; PMID:23104440 ; PMID:26656312 ; PMID:27672653

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896949G>A , CM000681.2:g.12896949G>A	GRCh38
NC_000019.9:g.13007763G>A , CM000681.1:g.13007763G>A	GRCh37
NC_000019.8:g.12868763G>A	NCBI36
NG_009292.1:g.10790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.892G>A MANE Select	ENSP00000222214.4:p.Ala298Thr
ENST00000222214.9:c.892G>A	ENSP00000222214.4:p.Ala298Thr
ENST00000421816.6:n.870G>A
ENST00000585420.5:n.1222G>A
ENST00000590530.5:c.*332G>A	ENSP00000468452.1:n.*332G>A
ENST00000591043.1:n.928G>A
ENST00000591470.5:c.892G>A	ENSP00000466845.1:p.Ala298Thr
NM_000159.3:c.892G>A	NP_000150.1:p.Ala298Thr
NM_013976.3:c.892G>A	NP_039663.1:p.Ala298Thr
NR_102316.1:n.1055G>A
NR_102317.1:n.1273G>A
XM_006722721.2:c.892G>A	XP_006722784.1:p.Ala298Thr
XM_011527899.1:c.892G>A	XP_011526201.1:p.Ala298Thr
XM_011527900.1:c.892G>A	XP_011526202.1:p.Ala298Thr
XM_011527899.2:c.892G>A	XP_011526201.1:p.Ala298Thr
XM_011527900.2:c.892G>A	XP_011526202.1:p.Ala298Thr
XM_017026580.1:c.892G>A	XP_016882069.1:p.Ala298Thr
NM_000159.4:c.892G>A MANE Select	NP_000150.1:p.Ala298Thr
NM_013976.4:c.892G>A	NP_039663.1:p.Ala298Thr
NM_013976.5:c.892G>A	NP_039663.1:p.Ala298Thr