Canonical Allele Identifier: CA9234393
Community Standard Title: NM_000159.4(GCDH):c.466G>A (p.Gly156Ser)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893614G>A , CM000681.2:g.12893614G>A GRCh38
NC_000019.9:g.13004428G>A , CM000681.1:g.13004428G>A GRCh37
NC_000019.8:g.12865428G>A NCBI36
NG_009292.1:g.7455G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.466G>A MANE Select NP_000150.1:p.Gly156Ser
ENST00000222214.10:c.466G>A MANE Select ENSP00000222214.4:p.Gly156Ser
NM_000159.3:c.466G>A NP_000150.1:p.Gly156Ser
NM_013976.3:c.466G>A NP_039663.1:p.Gly156Ser
NM_013976.4:c.466G>A NP_039663.1:p.Gly156Ser
NM_013976.5:c.466G>A NP_039663.1:p.Gly156Ser
NR_102316.1:n.629G>A
NR_102317.1:n.882G>A
ENST00000222214.9:c.466G>A ENSP00000222214.4:p.Gly156Ser
ENST00000421816.6:n.444G>A
ENST00000585420.5:n.831G>A
ENST00000587832.5:n.523G>A
ENST00000588905.5:c.430G>A ENSP00000465770.1:p.Gly144Ser
ENST00000589039.5:c.403G>A ENSP00000465618.1:p.Gly135Ser
ENST00000590530.5:c.521G>A ENSP00000468452.1:p.Trp174Ter
ENST00000590627.5:n.831G>A
ENST00000591043.1:n.502G>A
ENST00000591470.5:c.466G>A ENSP00000466845.1:p.Gly156Ser
XM_006722721.2:c.466G>A XP_006722784.1:p.Gly156Ser
XM_011527899.1:c.466G>A XP_011526201.1:p.Gly156Ser
XM_011527899.2:c.466G>A XP_011526201.1:p.Gly156Ser
XM_011527900.1:c.466G>A XP_011526202.1:p.Gly156Ser
XM_011527900.2:c.466G>A XP_011526202.1:p.Gly156Ser
XM_017026580.1:c.466G>A XP_016882069.1:p.Gly156Ser