Canonical Allele Identifier: CA9234703

Gene: GCDH SYCE2

Linked Data

• ClinVar Variation Id: 550027
• ClinVar RCV Id: RCV000664645
• dbSNP Id: rs771126053
• ExAC: 19:13010353 T / C
• gnomAD v2: 19-13010353-T-C
• gnomAD v4: 19-12899539-T-C
• MyVariant Identifiers: chr19:g.13010353T>C (hg19) ; chr19:g.12899539T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899539T>C , CM000681.2:g.12899539T>C	GRCh38
NC_000019.9:g.13010353T>C , CM000681.1:g.13010353T>C	GRCh37
NC_000019.8:g.12871353T>C	NCBI36
NG_009292.1:g.13380T>C
NG_033049.1:g.24734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1315T>C (GCDH) MANE Select	ENSP00000222214.4:p.Ter439Arg
ENST00000293695.8:c.613-154A>G (SYCE2) MANE Select	ENSP00000293695.6:n.613-154A>G
ENST00000222214.9:c.1315T>C (GCDH)	ENSP00000222214.4:p.Ter439Arg
ENST00000293695.7:c.613-154A>G (SYCE2)	ENSP00000293695.6:n.613-154A>G
ENST00000585420.5:n.1645T>C (GCDH)
ENST00000590530.5:c.*755T>C (GCDH)	ENSP00000468452.1:n.*755T>C
ENST00000591043.1:n.1625T>C (GCDH)
ENST00000591050.1:c.210+1676T>C (GCDH)
ENST00000591470.5:c.1315T>C (GCDH)	ENSP00000466845.1:p.Ter439Arg
ENST00000592819.1:c.186-154A>G (SYCE2)
NM_000159.3:c.1315T>C (GCDH)	NP_000150.1:p.Ter439Arg
NM_001105578.1:c.613-154A>G (SYCE2)	NP_001099048.1:n.613-154A>G
NM_013976.3:c.1244-161T>C (GCDH)	NP_039663.1:n.1244-161T>C
NR_102316.1:n.1478T>C (GCDH)
NR_102317.1:n.1696T>C (GCDH)
XM_005259848.3:c.*23-154A>G (SYCE2)	XP_005259905.1:n.*23-154A>G
XM_006722721.2:c.1244-695T>C (GCDH)	XP_006722784.1:n.1244-695T>C
XM_011527882.1:c.610-154A>G (SYCE2)	XP_011526184.1:n.610-154A>G
XM_011527883.1:c.*23-154A>G (SYCE2)	XP_011526185.1:n.*23-154A>G
XM_011527899.1:c.1243+1676T>C (GCDH)	XP_011526201.1:n.1243+1676T>C
XM_011527900.1:c.1244-695T>C (GCDH)	XP_011526202.1:n.1244-695T>C
XM_005259848.4:c.*23-154A>G (SYCE2)	XP_005259905.1:n.*23-154A>G
XM_011527882.2:c.610-154A>G (SYCE2)	XP_011526184.1:n.610-154A>G
XM_011527883.2:c.*23-154A>G (SYCE2)	XP_011526185.1:n.*23-154A>G
XM_011527899.2:c.1243+1676T>C (GCDH)	XP_011526201.1:n.1243+1676T>C
XM_011527900.2:c.1244-695T>C (GCDH)	XP_011526202.1:n.1244-695T>C
XM_017026580.1:c.1244-695T>C (GCDH)	XP_016882069.1:n.1244-695T>C
NM_000159.4:c.1315T>C (GCDH) MANE Select	NP_000150.1:p.Ter439Arg
NM_001105578.2:c.613-154A>G (SYCE2) MANE Select	NP_001099048.1:n.613-154A>G
NM_013976.4:c.1244-161T>C (GCDH)	NP_039663.1:n.1244-161T>C
NM_013976.5:c.1244-161T>C (GCDH)	NP_039663.1:n.1244-161T>C