Canonical Allele Identifier: CA9234462

Gene: GCDH

Linked Data

• ClinVar Variation Id: 658536
• ClinVar RCV Id: RCV000815377
• dbSNP Id: rs368357056
• ExAC: 19:13007062 C / T
• gnomAD v2: 19-13007062-C-T
• gnomAD v3: 19-12896248-C-T
• gnomAD v4: 19-12896248-C-T
• MyVariant Identifiers: chr19:g.13007062C>T (hg19) ; chr19:g.12896248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896248C>T , CM000681.2:g.12896248C>T	GRCh38
NC_000019.9:g.13007062C>T , CM000681.1:g.13007062C>T	GRCh37
NC_000019.8:g.12868062C>T	NCBI36
NG_009292.1:g.10089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.679C>T MANE Select	ENSP00000222214.4:p.Arg227Trp
ENST00000222214.9:c.679C>T	ENSP00000222214.4:p.Arg227Trp
ENST00000421816.6:n.657C>T
ENST00000585420.5:n.1009C>T
ENST00000590530.5:c.*119C>T	ENSP00000468452.1:n.*119C>T
ENST00000591043.1:n.715C>T
ENST00000591470.5:c.679C>T	ENSP00000466845.1:p.Arg227Trp
NM_000159.3:c.679C>T	NP_000150.1:p.Arg227Trp
NM_013976.3:c.679C>T	NP_039663.1:p.Arg227Trp
NR_102316.1:n.842C>T
NR_102317.1:n.1060C>T
XM_006722721.2:c.679C>T	XP_006722784.1:p.Arg227Trp
XM_011527899.1:c.679C>T	XP_011526201.1:p.Arg227Trp
XM_011527900.1:c.679C>T	XP_011526202.1:p.Arg227Trp
XM_011527899.2:c.679C>T	XP_011526201.1:p.Arg227Trp
XM_011527900.2:c.679C>T	XP_011526202.1:p.Arg227Trp
XM_017026580.1:c.679C>T	XP_016882069.1:p.Arg227Trp
NM_000159.4:c.679C>T MANE Select	NP_000150.1:p.Arg227Trp
NM_013976.4:c.679C>T	NP_039663.1:p.Arg227Trp
NM_013976.5:c.679C>T	NP_039663.1:p.Arg227Trp