Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899120G= , CM000681.2:g.12899120G=	GRCh38
NC_000019.9:g.13009934G= , CM000681.1:g.13009934G=	GRCh37
NC_000019.8:g.12870934G=	NCBI36
NG_009292.1:g.12961G=
NG_033049.1:g.25153C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-348G= (GCDH) MANE Select	ENSP00000222214.4:n.1244-348G=
ENST00000293695.8:c.*221C= (SYCE2) MANE Select	ENSP00000293695.6:n.*221C=
ENST00000222214.9:c.1244-348G= (GCDH)	ENSP00000222214.4:n.1244-348G=
ENST00000293695.7:c.*221C= (SYCE2)	ENSP00000293695.6:n.*221C=
ENST00000585420.5:n.1574-348G= (GCDH)
ENST00000590530.5:c.*684-348G= (GCDH)	ENSP00000468452.1:n.*684-348G=
ENST00000591043.1:n.1554-348G= (GCDH)
ENST00000591050.1:c.210+1257G= (GCDH)
ENST00000591470.5:c.1244-348G= (GCDH)	ENSP00000466845.1:n.1244-348G=
ENST00000592819.1:c.451C= (SYCE2)
NM_000159.3:c.1244-348G= (GCDH)	NP_000150.1:n.1244-348G=
NM_001105578.1:c.*221C= (SYCE2)	NP_001099048.1:n.*221C=
NM_013976.3:c.1244-580G= (GCDH)	NP_039663.1:n.1244-580G=
NR_102316.1:n.1407-348G= (GCDH)
NR_102317.1:n.1625-348G= (GCDH)
XM_006722721.2:c.1244-1114G= (GCDH)	XP_006722784.1:n.1244-1114G=
XM_011527882.1:c.*221C= (SYCE2)	XP_011526184.1:n.*221C=
XM_011527883.1:c.*288C= (SYCE2)	XP_011526185.1:n.*288C=
XM_011527899.1:c.1243+1257G= (GCDH)	XP_011526201.1:n.1243+1257G=
XM_011527900.1:c.1244-1114G= (GCDH)	XP_011526202.1:n.1244-1114G=
XM_005259848.4:c.*288C= (SYCE2)	XP_005259905.1:n.*288C=
XM_011527882.2:c.*221C= (SYCE2)	XP_011526184.1:n.*221C=
XM_011527883.2:c.*288C= (SYCE2)	XP_011526185.1:n.*288C=
XM_011527899.2:c.1243+1257G= (GCDH)	XP_011526201.1:n.1243+1257G=
XM_011527900.2:c.1244-1114G= (GCDH)	XP_011526202.1:n.1244-1114G=
XM_017026580.1:c.1244-1114G= (GCDH)	XP_016882069.1:n.1244-1114G=
NM_000159.4:c.1244-348G= (GCDH) MANE Select	NP_000150.1:n.1244-348G=
NM_001105578.2:c.*221C= (SYCE2) MANE Select	NP_001099048.1:n.*221C=
NM_013976.4:c.1244-580G= (GCDH)	NP_039663.1:n.1244-580G=
NM_013976.5:c.1244-580G= (GCDH)	NP_039663.1:n.1244-580G=