Canonical Allele Identifier: CA404322223

Gene: GCDH SYCE2

Linked Data

• MyVariant Identifiers: chr19:g.13010329A>C (hg19) ; chr19:g.12899515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899515A>C , CM000681.2:g.12899515A>C	GRCh38
NC_000019.9:g.13010329A>C , CM000681.1:g.13010329A>C	GRCh37
NC_000019.8:g.12871329A>C	NCBI36
NG_009292.1:g.13356A>C
NG_033049.1:g.24758T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1291A>C (GCDH) MANE Select	ENSP00000222214.4:p.Ile431Leu
ENST00000293695.8:c.613-130T>G (SYCE2) MANE Select	ENSP00000293695.6:n.613-130T>G
ENST00000222214.9:c.1291A>C (GCDH)	ENSP00000222214.4:p.Ile431Leu
ENST00000293695.7:c.613-130T>G (SYCE2)	ENSP00000293695.6:n.613-130T>G
ENST00000585420.5:n.1621A>C (GCDH)
ENST00000590530.5:c.*731A>C (GCDH)	ENSP00000468452.1:n.*731A>C
ENST00000591043.1:n.1601A>C (GCDH)
ENST00000591050.1:c.210+1652A>C (GCDH)
ENST00000591470.5:c.1291A>C (GCDH)	ENSP00000466845.1:p.Ile431Leu
ENST00000592819.1:c.186-130T>G (SYCE2)
NM_000159.3:c.1291A>C (GCDH)	NP_000150.1:p.Ile431Leu
NM_001105578.1:c.613-130T>G (SYCE2)	NP_001099048.1:n.613-130T>G
NM_013976.3:c.1244-185A>C (GCDH)	NP_039663.1:n.1244-185A>C
NR_102316.1:n.1454A>C (GCDH)
NR_102317.1:n.1672A>C (GCDH)
XM_005259848.3:c.*23-130T>G (SYCE2)	XP_005259905.1:n.*23-130T>G
XM_006722721.2:c.1244-719A>C (GCDH)	XP_006722784.1:n.1244-719A>C
XM_011527882.1:c.610-130T>G (SYCE2)	XP_011526184.1:n.610-130T>G
XM_011527883.1:c.*23-130T>G (SYCE2)	XP_011526185.1:n.*23-130T>G
XM_011527899.1:c.1243+1652A>C (GCDH)	XP_011526201.1:n.1243+1652A>C
XM_011527900.1:c.1244-719A>C (GCDH)	XP_011526202.1:n.1244-719A>C
XM_005259848.4:c.*23-130T>G (SYCE2)	XP_005259905.1:n.*23-130T>G
XM_011527882.2:c.610-130T>G (SYCE2)	XP_011526184.1:n.610-130T>G
XM_011527883.2:c.*23-130T>G (SYCE2)	XP_011526185.1:n.*23-130T>G
XM_011527899.2:c.1243+1652A>C (GCDH)	XP_011526201.1:n.1243+1652A>C
XM_011527900.2:c.1244-719A>C (GCDH)	XP_011526202.1:n.1244-719A>C
XM_017026580.1:c.1244-719A>C (GCDH)	XP_016882069.1:n.1244-719A>C
NM_000159.4:c.1291A>C (GCDH) MANE Select	NP_000150.1:p.Ile431Leu
NM_001105578.2:c.613-130T>G (SYCE2) MANE Select	NP_001099048.1:n.613-130T>G
NM_013976.4:c.1244-185A>C (GCDH)	NP_039663.1:n.1244-185A>C
NM_013976.5:c.1244-185A>C (GCDH)	NP_039663.1:n.1244-185A>C