Canonical Allele Identifier: CA9234371

Gene: GCDH

Linked Data

• ClinVar Variation Id: 863301
• ClinVar RCV Id: RCV001070239
• dbSNP Id: rs776758971
• ExAC: 19:13004306 G / A
• gnomAD v2: 19-13004306-G-A
• gnomAD v3: 19-12893492-G-A
• gnomAD v4: 19-12893492-G-A
• MyVariant Identifiers: chr19:g.13004306G>A (hg19) ; chr19:g.12893492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893492G>A , CM000681.2:g.12893492G>A	GRCh38
NC_000019.9:g.13004306G>A , CM000681.1:g.13004306G>A	GRCh37
NC_000019.8:g.12865306G>A	NCBI36
NG_009292.1:g.7333G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.344G>A MANE Select	ENSP00000222214.4:p.Cys115Tyr
ENST00000222214.9:c.344G>A	ENSP00000222214.4:p.Cys115Tyr
ENST00000421816.6:n.322G>A
ENST00000585420.5:n.709G>A
ENST00000587072.1:c.392G>A	ENSP00000468584.1:p.Cys131Tyr
ENST00000587832.5:n.401G>A
ENST00000588905.5:c.308G>A	ENSP00000465770.1:p.Cys103Tyr
ENST00000589039.5:c.281G>A	ENSP00000465618.1:p.Cys94Tyr
ENST00000590530.5:c.399G>A	ENSP00000468452.1:p.Leu133=
ENST00000590627.5:n.709G>A
ENST00000591043.1:n.380G>A
ENST00000591470.5:c.344G>A	ENSP00000466845.1:p.Cys115Tyr
NM_000159.3:c.344G>A	NP_000150.1:p.Cys115Tyr
NM_013976.3:c.344G>A	NP_039663.1:p.Cys115Tyr
NR_102316.1:n.507G>A
NR_102317.1:n.760G>A
XM_006722721.2:c.344G>A	XP_006722784.1:p.Cys115Tyr
XM_011527899.1:c.344G>A	XP_011526201.1:p.Cys115Tyr
XM_011527900.1:c.344G>A	XP_011526202.1:p.Cys115Tyr
XM_011527899.2:c.344G>A	XP_011526201.1:p.Cys115Tyr
XM_011527900.2:c.344G>A	XP_011526202.1:p.Cys115Tyr
XM_017026580.1:c.344G>A	XP_016882069.1:p.Cys115Tyr
NM_000159.4:c.344G>A MANE Select	NP_000150.1:p.Cys115Tyr
NM_013976.4:c.344G>A	NP_039663.1:p.Cys115Tyr
NM_013976.5:c.344G>A	NP_039663.1:p.Cys115Tyr