Canonical Allele Identifier: CA505644748

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1609599
• ClinVar RCV Id: RCV002152539
• dbSNP Id: rs1198939173
• gnomAD v3: 19-12893637-G-A
• gnomAD v4: 19-12893637-G-A
• MyVariant Identifiers: chr19:g.13004451G>A (hg19) ; chr19:g.12893637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893637G>A , CM000681.2:g.12893637G>A	GRCh38
NC_000019.9:g.13004451G>A , CM000681.1:g.13004451G>A	GRCh37
NC_000019.8:g.12865451G>A	NCBI36
NG_009292.1:g.7478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.489G>A MANE Select	ENSP00000222214.4:p.Lys163=
ENST00000222214.9:c.489G>A	ENSP00000222214.4:p.Lys163=
ENST00000421816.6:n.467G>A
ENST00000585420.5:n.854G>A
ENST00000587832.5:n.546G>A
ENST00000588905.5:c.453G>A	ENSP00000465770.1:p.Lys151=
ENST00000589039.5:c.426G>A	ENSP00000465618.1:p.Lys142=
ENST00000590530.5:c.544G>A	ENSP00000468452.1:p.Val182Ile
ENST00000590627.5:n.854G>A
ENST00000591043.1:n.525G>A
ENST00000591470.5:c.489G>A	ENSP00000466845.1:p.Lys163=
NM_000159.3:c.489G>A	NP_000150.1:p.Lys163=
NM_013976.3:c.489G>A	NP_039663.1:p.Lys163=
NR_102316.1:n.652G>A
NR_102317.1:n.905G>A
XM_006722721.2:c.489G>A	XP_006722784.1:p.Lys163=
XM_011527899.1:c.489G>A	XP_011526201.1:p.Lys163=
XM_011527900.1:c.489G>A	XP_011526202.1:p.Lys163=
XM_011527899.2:c.489G>A	XP_011526201.1:p.Lys163=
XM_011527900.2:c.489G>A	XP_011526202.1:p.Lys163=
XM_017026580.1:c.489G>A	XP_016882069.1:p.Lys163=
NM_000159.4:c.489G>A MANE Select	NP_000150.1:p.Lys163=
NM_013976.4:c.489G>A	NP_039663.1:p.Lys163=
NM_013976.5:c.489G>A	NP_039663.1:p.Lys163=