Canonical Allele Identifier: CA9234443

Gene: GCDH

Linked Data

• ClinVar Variation Id: 702771
• ClinVar RCV Id: RCV000872004 ; RCV001726355 ; RCV002354672
• dbSNP Id: rs143172809
• ExAC: 19:13006927 C / T
• gnomAD v2: 19-13006927-C-T
• gnomAD v3: 19-12896113-C-T
• gnomAD v4: 19-12896113-C-T
• MyVariant Identifiers: chr19:g.13006927C>T (hg19) ; chr19:g.12896113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896113C>T , CM000681.2:g.12896113C>T	GRCh38
NC_000019.9:g.13006927C>T , CM000681.1:g.13006927C>T	GRCh37
NC_000019.8:g.12867927C>T	NCBI36
NG_009292.1:g.9954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.627C>T MANE Select	ENSP00000222214.4:p.Thr209=
ENST00000222214.9:c.627C>T	ENSP00000222214.4:p.Thr209=
ENST00000421816.6:n.605C>T
ENST00000585420.5:n.992C>T
ENST00000590530.5:c.*67C>T	ENSP00000468452.1:n.*67C>T
ENST00000591043.1:n.663C>T
ENST00000591470.5:c.627C>T	ENSP00000466845.1:p.Thr209=
NM_000159.3:c.627C>T	NP_000150.1:p.Thr209=
NM_013976.3:c.627C>T	NP_039663.1:p.Thr209=
NR_102316.1:n.790C>T
NR_102317.1:n.1043C>T
XM_006722721.2:c.627C>T	XP_006722784.1:p.Thr209=
XM_011527899.1:c.627C>T	XP_011526201.1:p.Thr209=
XM_011527900.1:c.627C>T	XP_011526202.1:p.Thr209=
XM_011527899.2:c.627C>T	XP_011526201.1:p.Thr209=
XM_011527900.2:c.627C>T	XP_011526202.1:p.Thr209=
XM_017026580.1:c.627C>T	XP_016882069.1:p.Thr209=
NM_000159.4:c.627C>T MANE Select	NP_000150.1:p.Thr209=
NM_013976.4:c.627C>T	NP_039663.1:p.Thr209=
NM_013976.5:c.627C>T	NP_039663.1:p.Thr209=