Canonical Allele Identifier: CA505648219
Community Standard Title: NM_000159.4(GCDH):c.555A>C (p.Gly185=)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896041A>C , CM000681.2:g.12896041A>C GRCh38
NC_000019.9:g.13006855A>C , CM000681.1:g.13006855A>C GRCh37
NC_000019.8:g.12867855A>C NCBI36
NG_009292.1:g.9882A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.555A>C MANE Select NP_000150.1:p.Gly185=
ENST00000222214.10:c.555A>C MANE Select ENSP00000222214.4:p.Gly185=
NM_000159.3:c.555A>C NP_000150.1:p.Gly185=
NM_013976.3:c.555A>C NP_039663.1:p.Gly185=
NM_013976.4:c.555A>C NP_039663.1:p.Gly185=
NM_013976.5:c.555A>C NP_039663.1:p.Gly185=
NR_102316.1:n.718A>C
NR_102317.1:n.971A>C
ENST00000222214.9:c.555A>C ENSP00000222214.4:p.Gly185=
ENST00000421816.6:n.533A>C
ENST00000585420.5:n.920A>C
ENST00000590530.5:c.610A>C ENSP00000468452.1:p.Lys204Gln
ENST00000591043.1:n.591A>C
ENST00000591470.5:c.555A>C ENSP00000466845.1:p.Gly185=
XM_006722721.2:c.555A>C XP_006722784.1:p.Gly185=
XM_011527899.1:c.555A>C XP_011526201.1:p.Gly185=
XM_011527899.2:c.555A>C XP_011526201.1:p.Gly185=
XM_011527900.1:c.555A>C XP_011526202.1:p.Gly185=
XM_011527900.2:c.555A>C XP_011526202.1:p.Gly185=
XM_017026580.1:c.555A>C XP_016882069.1:p.Gly185=