Canonical Allele Identifier: CA1139666322

Gene: GCDH

Linked Data

• ClinVar Variation Id: 943924
• ClinVar RCV Id: RCV001214210
• dbSNP Id: rs1970695925

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896989dup , CM000681.2:g.12896989dup	GRCh38
NC_000019.9:g.13007803dup , CM000681.1:g.13007803dup	GRCh37
NC_000019.8:g.12868803dup	NCBI36
NG_009292.1:g.10830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.932dup MANE Select	ENSP00000222214.4:p.Ala312SerfsTer?
ENST00000222214.9:c.932dup	ENSP00000222214.4:p.Ala312SerfsTer?
ENST00000421816.6:n.910dup
ENST00000585420.5:n.1262dup
ENST00000590530.5:c.*372dup	ENSP00000468452.1:n.*372dup
ENST00000591043.1:n.968dup
ENST00000591470.5:c.932dup	ENSP00000466845.1:p.Ala312SerfsTer?
NM_000159.3:c.932dup	NP_000150.1:p.Ala312SerfsTer?
NM_013976.3:c.932dup	NP_039663.1:p.Ala312SerfsTer?
NR_102316.1:n.1095dup
NR_102317.1:n.1313dup
XM_006722721.2:c.932dup	XP_006722784.1:p.Ala312SerfsTer?
XM_011527899.1:c.932dup	XP_011526201.1:p.Ala312SerfsTer?
XM_011527900.1:c.932dup	XP_011526202.1:p.Ala312SerfsTer?
XM_011527899.2:c.932dup	XP_011526201.1:p.Ala312SerfsTer?
XM_011527900.2:c.932dup	XP_011526202.1:p.Ala312SerfsTer?
XM_017026580.1:c.932dup	XP_016882069.1:p.Ala312SerfsTer?
NM_000159.4:c.932dup MANE Select	NP_000150.1:p.Ala312SerfsTer?
NM_013976.4:c.932dup	NP_039663.1:p.Ala312SerfsTer?
NM_013976.5:c.932dup	NP_039663.1:p.Ala312SerfsTer?