Canonical Allele Identifier: CA9234468

Gene: GCDH

Linked Data

• dbSNP Id: rs763648731
• ExAC: 19:13007102 AG / A
• gnomAD v2: 19-13007102-AG-A
• MyVariant Identifiers: chr19:g.13007103del (hg19) ; chr19:g.12896289del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896292del , CM000681.2:g.12896292del	GRCh38
NC_000019.9:g.13007106del , CM000681.1:g.13007106del	GRCh37
NC_000019.8:g.12868106del	NCBI36
NG_009292.1:g.10133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.723del MANE Select	ENSP00000222214.4:p.Met242CysfsTer22
ENST00000222214.9:c.723del	ENSP00000222214.4:p.Met242CysfsTer22
ENST00000421816.6:n.701del
ENST00000585420.5:n.1053del
ENST00000590530.5:c.*163del	ENSP00000468452.1:n.*163del
ENST00000591043.1:n.759del
ENST00000591470.5:c.723del	ENSP00000466845.1:p.Met242CysfsTer22
NM_000159.3:c.723del	NP_000150.1:p.Met242CysfsTer22
NM_013976.3:c.723del	NP_039663.1:p.Met242CysfsTer22
NR_102316.1:n.886del
NR_102317.1:n.1104del
XM_006722721.2:c.723del	XP_006722784.1:p.Met242CysfsTer22
XM_011527899.1:c.723del	XP_011526201.1:p.Met242CysfsTer22
XM_011527900.1:c.723del	XP_011526202.1:p.Met242CysfsTer22
XM_011527899.2:c.723del	XP_011526201.1:p.Met242CysfsTer22
XM_011527900.2:c.723del	XP_011526202.1:p.Met242CysfsTer22
XM_017026580.1:c.723del	XP_016882069.1:p.Met242CysfsTer22
NM_000159.4:c.723del MANE Select	NP_000150.1:p.Met242CysfsTer22
NM_013976.4:c.723del	NP_039663.1:p.Met242CysfsTer22
NM_013976.5:c.723del	NP_039663.1:p.Met242CysfsTer22