Canonical Allele Identifier: CA2739589857

Gene: GCDH SYCE2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899738C>A , CM000681.2:g.12899738C>A	GRCh38
NC_000019.9:g.13010552C>A , CM000681.1:g.13010552C>A	GRCh37
NC_000019.8:g.12871552C>A	NCBI36
NG_009292.1:g.13579C>A
NG_033049.1:g.24535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.*197C>A (GCDH) MANE Select	ENSP00000222214.4:n.*197C>A
ENST00000293695.8:c.612+266G>T (SYCE2) MANE Select	ENSP00000293695.6:n.612+266G>T
ENST00000222214.9:c.*197C>A (GCDH)	ENSP00000222214.4:n.*197C>A
ENST00000293695.7:c.612+266G>T (SYCE2)	ENSP00000293695.6:n.612+266G>T
ENST00000588242.2:n.168C>A (GCDH)
ENST00000590530.5:c.*954C>A (GCDH)	ENSP00000468452.1:n.*954C>A
ENST00000591050.1:c.210+1875C>A (GCDH)
ENST00000591470.5:c.*197C>A (GCDH)	ENSP00000466845.1:n.*197C>A
ENST00000592819.1:c.185+220G>T (SYCE2)
NM_000159.3:c.*197C>A (GCDH)	NP_000150.1:n.*197C>A
NM_001105578.1:c.612+266G>T (SYCE2)	NP_001099048.1:n.612+266G>T
NM_013976.3:c.1282C>A (GCDH)	NP_039663.1:p.Leu428Met
NR_102316.1:n.1677C>A (GCDH)
NR_102317.1:n.1895C>A (GCDH)
XM_005259848.3:c.*22+220G>T (SYCE2)	XP_005259905.1:n.*22+220G>T
XM_006722721.2:c.1244-496C>A (GCDH)	XP_006722784.1:n.1244-496C>A
XM_011527882.1:c.609+266G>T (SYCE2)	XP_011526184.1:n.609+266G>T
XM_011527883.1:c.*22+220G>T (SYCE2)	XP_011526185.1:n.*22+220G>T
XM_011527899.1:c.1243+1875C>A (GCDH)	XP_011526201.1:n.1243+1875C>A
XM_011527900.1:c.1244-496C>A (GCDH)	XP_011526202.1:n.1244-496C>A
XM_005259848.4:c.*22+220G>T (SYCE2)	XP_005259905.1:n.*22+220G>T
XM_011527882.2:c.609+266G>T (SYCE2)	XP_011526184.1:n.609+266G>T
XM_011527883.2:c.*22+220G>T (SYCE2)	XP_011526185.1:n.*22+220G>T
XM_011527899.2:c.1243+1875C>A (GCDH)	XP_011526201.1:n.1243+1875C>A
XM_011527900.2:c.1244-496C>A (GCDH)	XP_011526202.1:n.1244-496C>A
XM_017026580.1:c.1244-496C>A (GCDH)	XP_016882069.1:n.1244-496C>A
NM_000159.4:c.*197C>A (GCDH) MANE Select	NP_000150.1:n.*197C>A
NM_001105578.2:c.612+266G>T (SYCE2) MANE Select	NP_001099048.1:n.612+266G>T
NM_013976.4:c.1282C>A (GCDH)	NP_039663.1:p.Leu428Met
NM_013976.5:c.1282C>A (GCDH)	NP_039663.1:p.Leu428Met