Canonical Allele Identifier: CA404317611
Community Standard Title: NM_000159.4(GCDH):c.467G>C (p.Gly156Ala)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893615G>C , CM000681.2:g.12893615G>C GRCh38
NC_000019.9:g.13004429G>C , CM000681.1:g.13004429G>C GRCh37
NC_000019.8:g.12865429G>C NCBI36
NG_009292.1:g.7456G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.467G>C MANE Select NP_000150.1:p.Gly156Ala
ENST00000222214.10:c.467G>C MANE Select ENSP00000222214.4:p.Gly156Ala
NM_000159.3:c.467G>C NP_000150.1:p.Gly156Ala
NM_013976.3:c.467G>C NP_039663.1:p.Gly156Ala
NM_013976.4:c.467G>C NP_039663.1:p.Gly156Ala
NM_013976.5:c.467G>C NP_039663.1:p.Gly156Ala
NR_102316.1:n.630G>C
NR_102317.1:n.883G>C
ENST00000222214.9:c.467G>C ENSP00000222214.4:p.Gly156Ala
ENST00000421816.6:n.445G>C
ENST00000585420.5:n.832G>C
ENST00000587832.5:n.524G>C
ENST00000588905.5:c.431G>C ENSP00000465770.1:p.Gly144Ala
ENST00000589039.5:c.404G>C ENSP00000465618.1:p.Gly135Ala
ENST00000590530.5:c.522G>C ENSP00000468452.1:p.Trp174Cys
ENST00000590627.5:n.832G>C
ENST00000591043.1:n.503G>C
ENST00000591470.5:c.467G>C ENSP00000466845.1:p.Gly156Ala
XM_006722721.2:c.467G>C XP_006722784.1:p.Gly156Ala
XM_011527899.1:c.467G>C XP_011526201.1:p.Gly156Ala
XM_011527899.2:c.467G>C XP_011526201.1:p.Gly156Ala
XM_011527900.1:c.467G>C XP_011526202.1:p.Gly156Ala
XM_011527900.2:c.467G>C XP_011526202.1:p.Gly156Ala
XM_017026580.1:c.467G>C XP_016882069.1:p.Gly156Ala