Canonical Allele Identifier: CA275977

Gene: GCDH SYCE2

Linked Data

• ClinVar Variation Id: 208504
• ClinVar RCV Id: RCV001682897 ; RCV001729448
• dbSNP Id: rs8012
• ExAC: 19:13010520 A / G
• gnomAD v2: 19-13010520-A-G
• gnomAD v3: 19-12899706-A-G
• gnomAD v4: 19-12899706-A-G
• MyVariant Identifiers: chr19:g.13010520A>G (hg19) ; chr19:g.12899706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899706A>G , CM000681.2:g.12899706A>G	GRCh38
NC_000019.9:g.13010520A>G , CM000681.1:g.13010520A>G	GRCh37
NC_000019.8:g.12871520A>G	NCBI36
NG_009292.1:g.13547A>G
NG_033049.1:g.24567T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.*165A>G (GCDH) MANE Select	ENSP00000222214.4:n.*165A>G
ENST00000293695.8:c.612+298T>C (SYCE2) MANE Select	ENSP00000293695.6:n.612+298T>C
ENST00000222214.9:c.*165A>G (GCDH)	ENSP00000222214.4:n.*165A>G
ENST00000293695.7:c.612+298T>C (SYCE2)	ENSP00000293695.6:n.612+298T>C
ENST00000588242.2:n.136A>G (GCDH)
ENST00000590530.5:c.*922A>G (GCDH)	ENSP00000468452.1:n.*922A>G
ENST00000591050.1:c.210+1843A>G (GCDH)
ENST00000591470.5:c.*165A>G (GCDH)	ENSP00000466845.1:n.*165A>G
ENST00000592819.1:c.185+252T>C (SYCE2)
NM_000159.3:c.*165A>G (GCDH)	NP_000150.1:n.*165A>G
NM_001105578.1:c.612+298T>C (SYCE2)	NP_001099048.1:n.612+298T>C
NM_013976.3:c.1250A>G (GCDH)	NP_039663.1:p.Gln417Arg
NR_102316.1:n.1645A>G (GCDH)
NR_102317.1:n.1863A>G (GCDH)
XM_005259848.3:c.*22+252T>C (SYCE2)	XP_005259905.1:n.*22+252T>C
XM_006722721.2:c.1244-528A>G (GCDH)	XP_006722784.1:n.1244-528A>G
XM_011527882.1:c.609+298T>C (SYCE2)	XP_011526184.1:n.609+298T>C
XM_011527883.1:c.*22+252T>C (SYCE2)	XP_011526185.1:n.*22+252T>C
XM_011527899.1:c.1243+1843A>G (GCDH)	XP_011526201.1:n.1243+1843A>G
XM_011527900.1:c.1244-528A>G (GCDH)	XP_011526202.1:n.1244-528A>G
XM_005259848.4:c.*22+252T>C (SYCE2)	XP_005259905.1:n.*22+252T>C
XM_011527882.2:c.609+298T>C (SYCE2)	XP_011526184.1:n.609+298T>C
XM_011527883.2:c.*22+252T>C (SYCE2)	XP_011526185.1:n.*22+252T>C
XM_011527899.2:c.1243+1843A>G (GCDH)	XP_011526201.1:n.1243+1843A>G
XM_011527900.2:c.1244-528A>G (GCDH)	XP_011526202.1:n.1244-528A>G
XM_017026580.1:c.1244-528A>G (GCDH)	XP_016882069.1:n.1244-528A>G
NM_000159.4:c.*165A>G (GCDH) MANE Select	NP_000150.1:n.*165A>G
NM_001105578.2:c.612+298T>C (SYCE2) MANE Select	NP_001099048.1:n.612+298T>C
NM_013976.4:c.1250A>G (GCDH)	NP_039663.1:p.Gln417Arg
NM_013976.5:c.1250A>G (GCDH)	NP_039663.1:p.Gln417Arg