Canonical Allele Identifier: CA1139666321

Gene: GCDH

Linked Data

• ClinVar Variation Id: 950708
• ClinVar RCV Id: RCV001222475
• dbSNP Id: rs1970693382
• gnomAD v4: 19-12896915-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896917dup , CM000681.2:g.12896917dup	GRCh38
NC_000019.9:g.13007731dup , CM000681.1:g.13007731dup	GRCh37
NC_000019.8:g.12868731dup	NCBI36
NG_009292.1:g.10758dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.860dup MANE Select	ENSP00000222214.4:p.Gly288ArgfsTer?
ENST00000222214.9:c.860dup	ENSP00000222214.4:p.Gly288ArgfsTer?
ENST00000421816.6:n.838dup
ENST00000585420.5:n.1190dup
ENST00000590530.5:c.*300dup	ENSP00000468452.1:n.*300dup
ENST00000591043.1:n.896dup
ENST00000591470.5:c.860dup	ENSP00000466845.1:p.Gly288ArgfsTer?
NM_000159.3:c.860dup	NP_000150.1:p.Gly288ArgfsTer?
NM_013976.3:c.860dup	NP_039663.1:p.Gly288ArgfsTer?
NR_102316.1:n.1023dup
NR_102317.1:n.1241dup
XM_006722721.2:c.860dup	XP_006722784.1:p.Gly288ArgfsTer?
XM_011527899.1:c.860dup	XP_011526201.1:p.Gly288ArgfsTer?
XM_011527900.1:c.860dup	XP_011526202.1:p.Gly288ArgfsTer?
XM_011527899.2:c.860dup	XP_011526201.1:p.Gly288ArgfsTer?
XM_011527900.2:c.860dup	XP_011526202.1:p.Gly288ArgfsTer?
XM_017026580.1:c.860dup	XP_016882069.1:p.Gly288ArgfsTer?
NM_000159.4:c.860dup MANE Select	NP_000150.1:p.Gly288ArgfsTer?
NM_013976.4:c.860dup	NP_039663.1:p.Gly288ArgfsTer?
NM_013976.5:c.860dup	NP_039663.1:p.Gly288ArgfsTer?