Canonical Allele Identifier: CA505778879

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2881073
• ClinVar RCV Id: RCV003602796
• dbSNP Id: rs1970675822
• gnomAD v4: 19-12896250-G-A
• MyVariant Identifiers: chr19:g.13007064G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896250G>A , CM000681.2:g.12896250G>A	GRCh38
NC_000019.9:g.13007064G>A , CM000681.1:g.13007064G>A	GRCh37
NC_000019.8:g.12868064G>A	NCBI36
NG_009292.1:g.10091G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.681G>A MANE Select	ENSP00000222214.4:p.Arg227=
ENST00000222214.9:c.681G>A	ENSP00000222214.4:p.Arg227=
ENST00000421816.6:n.659G>A
ENST00000585420.5:n.1011G>A
ENST00000590530.5:c.*121G>A	ENSP00000468452.1:n.*121G>A
ENST00000591043.1:n.717G>A
ENST00000591470.5:c.681G>A	ENSP00000466845.1:p.Arg227=
NM_000159.3:c.681G>A	NP_000150.1:p.Arg227=
NM_013976.3:c.681G>A	NP_039663.1:p.Arg227=
NR_102316.1:n.844G>A
NR_102317.1:n.1062G>A
XM_006722721.2:c.681G>A	XP_006722784.1:p.Arg227=
XM_011527899.1:c.681G>A	XP_011526201.1:p.Arg227=
XM_011527900.1:c.681G>A	XP_011526202.1:p.Arg227=
XM_011527899.2:c.681G>A	XP_011526201.1:p.Arg227=
XM_011527900.2:c.681G>A	XP_011526202.1:p.Arg227=
XM_017026580.1:c.681G>A	XP_016882069.1:p.Arg227=
NM_000159.4:c.681G>A MANE Select	NP_000150.1:p.Arg227=
NM_013976.4:c.681G>A	NP_039663.1:p.Arg227=
NM_013976.5:c.681G>A	NP_039663.1:p.Arg227=