Canonical Allele Identifier: CA9234697

Gene: GCDH SYCE2

Linked Data

• ClinVar Variation Id: 745562
• ClinVar RCV Id: RCV000922119 ; RCV003960407
• dbSNP Id: rs141819282
• ExAC: 19:13010325 G / A
• gnomAD v2: 19-13010325-G-A
• gnomAD v3: 19-12899511-G-A
• gnomAD v4: 19-12899511-G-A
• MyVariant Identifiers: chr19:g.13010325G>A (hg19) ; chr19:g.12899511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899511G>A , CM000681.2:g.12899511G>A	GRCh38
NC_000019.9:g.13010325G>A , CM000681.1:g.13010325G>A	GRCh37
NC_000019.8:g.12871325G>A	NCBI36
NG_009292.1:g.13352G>A
NG_033049.1:g.24762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1287G>A (GCDH) MANE Select	ENSP00000222214.4:p.Thr429=
ENST00000293695.8:c.613-126C>T (SYCE2) MANE Select	ENSP00000293695.6:n.613-126C>T
ENST00000222214.9:c.1287G>A (GCDH)	ENSP00000222214.4:p.Thr429=
ENST00000293695.7:c.613-126C>T (SYCE2)	ENSP00000293695.6:n.613-126C>T
ENST00000585420.5:n.1617G>A (GCDH)
ENST00000590530.5:c.*727G>A (GCDH)	ENSP00000468452.1:n.*727G>A
ENST00000591043.1:n.1597G>A (GCDH)
ENST00000591050.1:c.210+1648G>A (GCDH)
ENST00000591470.5:c.1287G>A (GCDH)	ENSP00000466845.1:p.Thr429=
ENST00000592819.1:c.186-126C>T (SYCE2)
NM_000159.3:c.1287G>A (GCDH)	NP_000150.1:p.Thr429=
NM_001105578.1:c.613-126C>T (SYCE2)	NP_001099048.1:n.613-126C>T
NM_013976.3:c.1244-189G>A (GCDH)	NP_039663.1:n.1244-189G>A
NR_102316.1:n.1450G>A (GCDH)
NR_102317.1:n.1668G>A (GCDH)
XM_005259848.3:c.*23-126C>T (SYCE2)	XP_005259905.1:n.*23-126C>T
XM_006722721.2:c.1244-723G>A (GCDH)	XP_006722784.1:n.1244-723G>A
XM_011527882.1:c.610-126C>T (SYCE2)	XP_011526184.1:n.610-126C>T
XM_011527883.1:c.*23-126C>T (SYCE2)	XP_011526185.1:n.*23-126C>T
XM_011527899.1:c.1243+1648G>A (GCDH)	XP_011526201.1:n.1243+1648G>A
XM_011527900.1:c.1244-723G>A (GCDH)	XP_011526202.1:n.1244-723G>A
XM_005259848.4:c.*23-126C>T (SYCE2)	XP_005259905.1:n.*23-126C>T
XM_011527882.2:c.610-126C>T (SYCE2)	XP_011526184.1:n.610-126C>T
XM_011527883.2:c.*23-126C>T (SYCE2)	XP_011526185.1:n.*23-126C>T
XM_011527899.2:c.1243+1648G>A (GCDH)	XP_011526201.1:n.1243+1648G>A
XM_011527900.2:c.1244-723G>A (GCDH)	XP_011526202.1:n.1244-723G>A
XM_017026580.1:c.1244-723G>A (GCDH)	XP_016882069.1:n.1244-723G>A
NM_000159.4:c.1287G>A (GCDH) MANE Select	NP_000150.1:p.Thr429=
NM_001105578.2:c.613-126C>T (SYCE2) MANE Select	NP_001099048.1:n.613-126C>T
NM_013976.4:c.1244-189G>A (GCDH)	NP_039663.1:n.1244-189G>A
NM_013976.5:c.1244-189G>A (GCDH)	NP_039663.1:n.1244-189G>A