Canonical Allele Identifier: CA505644221

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2814646
• ClinVar RCV Id: RCV003604236
• MyVariant Identifiers: chr19:g.13004310T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893496T>G , CM000681.2:g.12893496T>G	GRCh38
NC_000019.9:g.13004310T>G , CM000681.1:g.13004310T>G	GRCh37
NC_000019.8:g.12865310T>G	NCBI36
NG_009292.1:g.7337T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.348T>G MANE Select	ENSP00000222214.4:p.Ala116=
ENST00000222214.9:c.348T>G	ENSP00000222214.4:p.Ala116=
ENST00000421816.6:n.326T>G
ENST00000585420.5:n.713T>G
ENST00000587832.5:n.405T>G
ENST00000588905.5:c.312T>G	ENSP00000465770.1:p.Ala104=
ENST00000589039.5:c.285T>G	ENSP00000465618.1:p.Ala95=
ENST00000590530.5:c.403T>G	ENSP00000468452.1:p.Trp135Gly
ENST00000590627.5:n.713T>G
ENST00000591043.1:n.384T>G
ENST00000591470.5:c.348T>G	ENSP00000466845.1:p.Ala116=
NM_000159.3:c.348T>G	NP_000150.1:p.Ala116=
NM_013976.3:c.348T>G	NP_039663.1:p.Ala116=
NR_102316.1:n.511T>G
NR_102317.1:n.764T>G
XM_006722721.2:c.348T>G	XP_006722784.1:p.Ala116=
XM_011527899.1:c.348T>G	XP_011526201.1:p.Ala116=
XM_011527900.1:c.348T>G	XP_011526202.1:p.Ala116=
XM_011527899.2:c.348T>G	XP_011526201.1:p.Ala116=
XM_011527900.2:c.348T>G	XP_011526202.1:p.Ala116=
XM_017026580.1:c.348T>G	XP_016882069.1:p.Ala116=
NM_000159.4:c.348T>G MANE Select	NP_000150.1:p.Ala116=
NM_013976.4:c.348T>G	NP_039663.1:p.Ala116=
NM_013976.5:c.348T>G	NP_039663.1:p.Ala116=