Canonical Allele Identifier: CA658824679

Gene: GCDH

Linked Data

• ClinVar Variation Id: 558008
• ClinVar RCV Id: RCV000674219
• dbSNP Id: rs1555750580
• MyVariant Identifiers: chr19:g.12896296_12896299dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896296_12896299dup , CM000681.2:g.12896296_12896299dup	GRCh38
NC_000019.9:g.13007110_13007113dup , CM000681.1:g.13007110_13007113dup	GRCh37
NC_000019.8:g.12868110_12868113dup	NCBI36
NG_009292.1:g.10137_10140dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.727_730dup MANE Select	ENSP00000222214.4:p.Gly244AlafsTer?
ENST00000222214.9:c.727_730dup	ENSP00000222214.4:p.Gly244AlafsTer?
ENST00000421816.6:n.705_708dup
ENST00000585420.5:n.1057_1060dup
ENST00000590530.5:c.*167_*170dup	ENSP00000468452.1:n.*167_*170dup
ENST00000591043.1:n.763_766dup
ENST00000591470.5:c.727_730dup	ENSP00000466845.1:p.Gly244AlafsTer?
NM_000159.3:c.727_730dup	NP_000150.1:p.Gly244AlafsTer?
NM_013976.3:c.727_730dup	NP_039663.1:p.Gly244AlafsTer?
NR_102316.1:n.890_893dup
NR_102317.1:n.1108_1111dup
XM_006722721.2:c.727_730dup	XP_006722784.1:p.Gly244AlafsTer?
XM_011527899.1:c.727_730dup	XP_011526201.1:p.Gly244AlafsTer?
XM_011527900.1:c.727_730dup	XP_011526202.1:p.Gly244AlafsTer?
XM_011527899.2:c.727_730dup	XP_011526201.1:p.Gly244AlafsTer?
XM_011527900.2:c.727_730dup	XP_011526202.1:p.Gly244AlafsTer?
XM_017026580.1:c.727_730dup	XP_016882069.1:p.Gly244AlafsTer?
NM_000159.4:c.727_730dup MANE Select	NP_000150.1:p.Gly244AlafsTer?
NM_013976.4:c.727_730dup	NP_039663.1:p.Gly244AlafsTer?
NM_013976.5:c.727_730dup	NP_039663.1:p.Gly244AlafsTer?