Canonical Allele Identifier: CA2323624869

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899353A= , CM000681.2:g.12899353A= GRCh38
NC_000019.9:g.13010167A= , CM000681.1:g.13010167A= GRCh37
NC_000019.8:g.12871167A= NCBI36
NG_009292.1:g.13194A=
NG_033049.1:g.24920T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-115A= (GCDH) MANE Select ENSP00000222214.4:n.1244-115A=
ENST00000293695.8:c.645T= (SYCE2) MANE Select ENSP00000293695.6:p.Asp215=
ENST00000222214.9:c.1244-115A= (GCDH) ENSP00000222214.4:n.1244-115A=
ENST00000293695.7:c.645T= (SYCE2) ENSP00000293695.6:p.Asp215=
ENST00000585420.5:n.1574-115A= (GCDH)
ENST00000590530.5:c.*684-115A= (GCDH) ENSP00000468452.1:n.*684-115A=
ENST00000591043.1:n.1554-115A= (GCDH)
ENST00000591050.1:c.210+1490A= (GCDH)
ENST00000591470.5:c.1244-115A= (GCDH) ENSP00000466845.1:n.1244-115A=
ENST00000592819.1:c.218T= (SYCE2)
NM_000159.3:c.1244-115A= (GCDH) NP_000150.1:n.1244-115A=
NM_001105578.1:c.645T= (SYCE2) NP_001099048.1:p.Asp215=
NM_013976.3:c.1244-347A= (GCDH) NP_039663.1:n.1244-347A=
NR_102316.1:n.1407-115A= (GCDH)
NR_102317.1:n.1625-115A= (GCDH)
XM_005259848.3:c.*55T= (SYCE2) XP_005259905.1:n.*55T=
XM_006722721.2:c.1244-881A= (GCDH) XP_006722784.1:n.1244-881A=
XM_011527882.1:c.642T= (SYCE2) XP_011526184.1:p.Asp214=
XM_011527883.1:c.*55T= (SYCE2) XP_011526185.1:n.*55T=
XM_011527899.1:c.1243+1490A= (GCDH) XP_011526201.1:n.1243+1490A=
XM_011527900.1:c.1244-881A= (GCDH) XP_011526202.1:n.1244-881A=
XM_005259848.4:c.*55T= (SYCE2) XP_005259905.1:n.*55T=
XM_011527882.2:c.642T= (SYCE2) XP_011526184.1:p.Asp214=
XM_011527883.2:c.*55T= (SYCE2) XP_011526185.1:n.*55T=
XM_011527899.2:c.1243+1490A= (GCDH) XP_011526201.1:n.1243+1490A=
XM_011527900.2:c.1244-881A= (GCDH) XP_011526202.1:n.1244-881A=
XM_017026580.1:c.1244-881A= (GCDH) XP_016882069.1:n.1244-881A=
NM_000159.4:c.1244-115A= (GCDH) MANE Select NP_000150.1:n.1244-115A=
NM_001105578.2:c.645T= (SYCE2) MANE Select NP_001099048.1:p.Asp215=
NM_013976.4:c.1244-347A= (GCDH) NP_039663.1:n.1244-347A=
NM_013976.5:c.1244-347A= (GCDH) NP_039663.1:n.1244-347A=