Canonical Allele Identifier: CA274964

Gene: GCDH SYCE2

Linked Data

• ClinVar Variation Id: 193976
• ClinVar RCV Id: RCV000174223 ; RCV000521145
• dbSNP Id: rs199999619
• ExAC: 19:13010280 A / C
• gnomAD v2: 19-13010280-A-C
• gnomAD v3: 19-12899466-A-C
• gnomAD v4: 19-12899466-A-C
• MyVariant Identifiers: chr19:g.13010280A>C (hg19) ; chr19:g.12899466A>C (hg38)
• PubMed: PMID:11058907 ; PMID:15505393 ; PMID:18683078 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899466A>C , CM000681.2:g.12899466A>C	GRCh38
NC_000019.9:g.13010280A>C , CM000681.1:g.13010280A>C	GRCh37
NC_000019.8:g.12871280A>C	NCBI36
NG_009292.1:g.13307A>C
NG_033049.1:g.24807T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.1244-2A>C (GCDH) MANE Select	ENSP00000222214.4:n.1244-2A>C
ENST00000293695.8:c.613-81T>G (SYCE2) MANE Select	ENSP00000293695.6:n.613-81T>G
ENST00000222214.9:c.1244-2A>C (GCDH)	ENSP00000222214.4:n.1244-2A>C
ENST00000293695.7:c.613-81T>G (SYCE2)	ENSP00000293695.6:n.613-81T>G
ENST00000585420.5:n.1574-2A>C (GCDH)
ENST00000590530.5:c.*684-2A>C (GCDH)	ENSP00000468452.1:n.*684-2A>C
ENST00000591043.1:n.1554-2A>C (GCDH)
ENST00000591050.1:c.210+1603A>C (GCDH)
ENST00000591470.5:c.1244-2A>C (GCDH)	ENSP00000466845.1:n.1244-2A>C
ENST00000592819.1:c.186-81T>G (SYCE2)
NM_000159.3:c.1244-2A>C (GCDH)	NP_000150.1:n.1244-2A>C
NM_001105578.1:c.613-81T>G (SYCE2)	NP_001099048.1:n.613-81T>G
NM_013976.3:c.1244-234A>C (GCDH)	NP_039663.1:n.1244-234A>C
NR_102316.1:n.1407-2A>C (GCDH)
NR_102317.1:n.1625-2A>C (GCDH)
XM_005259848.3:c.*23-81T>G (SYCE2)	XP_005259905.1:n.*23-81T>G
XM_006722721.2:c.1244-768A>C (GCDH)	XP_006722784.1:n.1244-768A>C
XM_011527882.1:c.610-81T>G (SYCE2)	XP_011526184.1:n.610-81T>G
XM_011527883.1:c.*23-81T>G (SYCE2)	XP_011526185.1:n.*23-81T>G
XM_011527899.1:c.1243+1603A>C (GCDH)	XP_011526201.1:n.1243+1603A>C
XM_011527900.1:c.1244-768A>C (GCDH)	XP_011526202.1:n.1244-768A>C
XM_005259848.4:c.*23-81T>G (SYCE2)	XP_005259905.1:n.*23-81T>G
XM_011527882.2:c.610-81T>G (SYCE2)	XP_011526184.1:n.610-81T>G
XM_011527883.2:c.*23-81T>G (SYCE2)	XP_011526185.1:n.*23-81T>G
XM_011527899.2:c.1243+1603A>C (GCDH)	XP_011526201.1:n.1243+1603A>C
XM_011527900.2:c.1244-768A>C (GCDH)	XP_011526202.1:n.1244-768A>C
XM_017026580.1:c.1244-768A>C (GCDH)	XP_016882069.1:n.1244-768A>C
NM_000159.4:c.1244-2A>C (GCDH) MANE Select	NP_000150.1:n.1244-2A>C
NM_001105578.2:c.613-81T>G (SYCE2) MANE Select	NP_001099048.1:n.613-81T>G
NM_013976.4:c.1244-234A>C (GCDH)	NP_039663.1:n.1244-234A>C
NM_013976.5:c.1244-234A>C (GCDH)	NP_039663.1:n.1244-234A>C