Canonical Allele Identifier: CA9234432
Community Standard Title: NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896047C>A , CM000681.2:g.12896047C>A GRCh38
NC_000019.9:g.13006861C>A , CM000681.1:g.13006861C>A GRCh37
NC_000019.8:g.12867861C>A NCBI36
NG_009292.1:g.9888C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.561C>A MANE Select NP_000150.1:p.Asp187Glu
ENST00000222214.10:c.561C>A MANE Select ENSP00000222214.4:p.Asp187Glu
NM_000159.3:c.561C>A NP_000150.1:p.Asp187Glu
NM_013976.3:c.561C>A NP_039663.1:p.Asp187Glu
NM_013976.4:c.561C>A NP_039663.1:p.Asp187Glu
NM_013976.5:c.561C>A NP_039663.1:p.Asp187Glu
NR_102316.1:n.724C>A
NR_102317.1:n.977C>A
ENST00000222214.9:c.561C>A ENSP00000222214.4:p.Asp187Glu
ENST00000421816.6:n.539C>A
ENST00000585420.5:n.926C>A
ENST00000590530.5:c.*1C>A ENSP00000468452.1:n.*1C>A
ENST00000591043.1:n.597C>A
ENST00000591470.5:c.561C>A ENSP00000466845.1:p.Asp187Glu
XM_006722721.2:c.561C>A XP_006722784.1:p.Asp187Glu
XM_011527899.1:c.561C>A XP_011526201.1:p.Asp187Glu
XM_011527899.2:c.561C>A XP_011526201.1:p.Asp187Glu
XM_011527900.1:c.561C>A XP_011526202.1:p.Asp187Glu
XM_011527900.2:c.561C>A XP_011526202.1:p.Asp187Glu
XM_017026580.1:c.561C>A XP_016882069.1:p.Asp187Glu