Canonical Allele Identifier: CA404317306

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2780431
• ClinVar RCV Id: RCV003603234
• gnomAD v4: 19-12893497-G-A
• MyVariant Identifiers: chr19:g.13004311G>A (hg19) ; chr19:g.12893497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893497G>A , CM000681.2:g.12893497G>A	GRCh38
NC_000019.9:g.13004311G>A , CM000681.1:g.13004311G>A	GRCh37
NC_000019.8:g.12865311G>A	NCBI36
NG_009292.1:g.7338G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.349G>A MANE Select	ENSP00000222214.4:p.Gly117Arg
ENST00000222214.9:c.349G>A	ENSP00000222214.4:p.Gly117Arg
ENST00000421816.6:n.327G>A
ENST00000585420.5:n.714G>A
ENST00000587832.5:n.406G>A
ENST00000588905.5:c.313G>A	ENSP00000465770.1:p.Gly105Arg
ENST00000589039.5:c.286G>A	ENSP00000465618.1:p.Gly96Arg
ENST00000590530.5:c.404G>A	ENSP00000468452.1:p.Trp135Ter
ENST00000590627.5:n.714G>A
ENST00000591043.1:n.385G>A
ENST00000591470.5:c.349G>A	ENSP00000466845.1:p.Gly117Arg
NM_000159.3:c.349G>A	NP_000150.1:p.Gly117Arg
NM_013976.3:c.349G>A	NP_039663.1:p.Gly117Arg
NR_102316.1:n.512G>A
NR_102317.1:n.765G>A
XM_006722721.2:c.349G>A	XP_006722784.1:p.Gly117Arg
XM_011527899.1:c.349G>A	XP_011526201.1:p.Gly117Arg
XM_011527900.1:c.349G>A	XP_011526202.1:p.Gly117Arg
XM_011527899.2:c.349G>A	XP_011526201.1:p.Gly117Arg
XM_011527900.2:c.349G>A	XP_011526202.1:p.Gly117Arg
XM_017026580.1:c.349G>A	XP_016882069.1:p.Gly117Arg
NM_000159.4:c.349G>A MANE Select	NP_000150.1:p.Gly117Arg
NM_013976.4:c.349G>A	NP_039663.1:p.Gly117Arg
NM_013976.5:c.349G>A	NP_039663.1:p.Gly117Arg