Canonical Allele Identifier: CA404317458
Community Standard Title: NM_000159.4(GCDH):c.395G>C (p.Arg132Pro)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893543G>C , CM000681.2:g.12893543G>C GRCh38
NC_000019.9:g.13004357G>C , CM000681.1:g.13004357G>C GRCh37
NC_000019.8:g.12865357G>C NCBI36
NG_009292.1:g.7384G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.395G>C MANE Select NP_000150.1:p.Arg132Pro
ENST00000222214.10:c.395G>C MANE Select ENSP00000222214.4:p.Arg132Pro
NM_000159.3:c.395G>C NP_000150.1:p.Arg132Pro
NM_013976.3:c.395G>C NP_039663.1:p.Arg132Pro
NM_013976.4:c.395G>C NP_039663.1:p.Arg132Pro
NM_013976.5:c.395G>C NP_039663.1:p.Arg132Pro
NR_102316.1:n.558G>C
NR_102317.1:n.811G>C
ENST00000222214.9:c.395G>C ENSP00000222214.4:p.Arg132Pro
ENST00000421816.6:n.373G>C
ENST00000585420.5:n.760G>C
ENST00000587832.5:n.452G>C
ENST00000588905.5:c.359G>C ENSP00000465770.1:p.Arg120Pro
ENST00000589039.5:c.332G>C ENSP00000465618.1:p.Arg111Pro
ENST00000590530.5:c.450G>C ENSP00000468452.1:p.Ala150=
ENST00000590627.5:n.760G>C
ENST00000591043.1:n.431G>C
ENST00000591470.5:c.395G>C ENSP00000466845.1:p.Arg132Pro
XM_006722721.2:c.395G>C XP_006722784.1:p.Arg132Pro
XM_011527899.1:c.395G>C XP_011526201.1:p.Arg132Pro
XM_011527899.2:c.395G>C XP_011526201.1:p.Arg132Pro
XM_011527900.1:c.395G>C XP_011526202.1:p.Arg132Pro
XM_011527900.2:c.395G>C XP_011526202.1:p.Arg132Pro
XM_017026580.1:c.395G>C XP_016882069.1:p.Arg132Pro