Canonical Allele Identifier: CA2323624835

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12899293A= , CM000681.2:g.12899293A= GRCh38
NC_000019.9:g.13010107A= , CM000681.1:g.13010107A= GRCh37
NC_000019.8:g.12871107A= NCBI36
NG_009292.1:g.13134A=
NG_033049.1:g.24980T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1244-175A= (GCDH) MANE Select ENSP00000222214.4:n.1244-175A=
ENST00000293695.8:c.*48T= (SYCE2) MANE Select ENSP00000293695.6:n.*48T=
ENST00000222214.9:c.1244-175A= (GCDH) ENSP00000222214.4:n.1244-175A=
ENST00000293695.7:c.*48T= (SYCE2) ENSP00000293695.6:n.*48T=
ENST00000585420.5:n.1574-175A= (GCDH)
ENST00000590530.5:c.*684-175A= (GCDH) ENSP00000468452.1:n.*684-175A=
ENST00000591043.1:n.1554-175A= (GCDH)
ENST00000591050.1:c.210+1430A= (GCDH)
ENST00000591470.5:c.1244-175A= (GCDH) ENSP00000466845.1:n.1244-175A=
ENST00000592819.1:c.278T= (SYCE2)
NM_000159.3:c.1244-175A= (GCDH) NP_000150.1:n.1244-175A=
NM_001105578.1:c.*48T= (SYCE2) NP_001099048.1:n.*48T=
NM_013976.3:c.1244-407A= (GCDH) NP_039663.1:n.1244-407A=
NR_102316.1:n.1407-175A= (GCDH)
NR_102317.1:n.1625-175A= (GCDH)
XM_006722721.2:c.1244-941A= (GCDH) XP_006722784.1:n.1244-941A=
XM_011527882.1:c.*48T= (SYCE2) XP_011526184.1:n.*48T=
XM_011527883.1:c.*115T= (SYCE2) XP_011526185.1:n.*115T=
XM_011527899.1:c.1243+1430A= (GCDH) XP_011526201.1:n.1243+1430A=
XM_011527900.1:c.1244-941A= (GCDH) XP_011526202.1:n.1244-941A=
XM_005259848.4:c.*115T= (SYCE2) XP_005259905.1:n.*115T=
XM_011527882.2:c.*48T= (SYCE2) XP_011526184.1:n.*48T=
XM_011527883.2:c.*115T= (SYCE2) XP_011526185.1:n.*115T=
XM_011527899.2:c.1243+1430A= (GCDH) XP_011526201.1:n.1243+1430A=
XM_011527900.2:c.1244-941A= (GCDH) XP_011526202.1:n.1244-941A=
XM_017026580.1:c.1244-941A= (GCDH) XP_016882069.1:n.1244-941A=
NM_000159.4:c.1244-175A= (GCDH) MANE Select NP_000150.1:n.1244-175A=
NM_001105578.2:c.*48T= (SYCE2) MANE Select NP_001099048.1:n.*48T=
NM_013976.4:c.1244-407A= (GCDH) NP_039663.1:n.1244-407A=
NM_013976.5:c.1244-407A= (GCDH) NP_039663.1:n.1244-407A=