Canonical Allele Identifier: CA404320367
Community Standard Title: NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897421C>T , CM000681.2:g.12897421C>T GRCh38
NC_000019.9:g.13008235C>T , CM000681.1:g.13008235C>T GRCh37
NC_000019.8:g.12869235C>T NCBI36
NG_009292.1:g.11262C>T
NG_033049.1:g.26852G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.1075C>T MANE Select NP_000150.1:p.Gln359Ter
ENST00000222214.10:c.1075C>T MANE Select ENSP00000222214.4:p.Gln359Ter
NM_000159.3:c.1075C>T NP_000150.1:p.Gln359Ter
NM_013976.3:c.1075C>T NP_039663.1:p.Gln359Ter
NM_013976.4:c.1075C>T NP_039663.1:p.Gln359Ter
NM_013976.5:c.1075C>T NP_039663.1:p.Gln359Ter
NR_102316.1:n.1238C>T
NR_102317.1:n.1456C>T
ENST00000222214.9:c.1075C>T ENSP00000222214.4:p.Gln359Ter
ENST00000421816.6:n.1053C>T
ENST00000585420.5:n.1405C>T
ENST00000590472.5:c.119C>T
ENST00000590530.5:c.*515C>T ENSP00000468452.1:n.*515C>T
ENST00000591043.1:n.1111C>T
ENST00000591050.1:c.42C>T
ENST00000591470.5:c.1075C>T ENSP00000466845.1:p.Gln359Ter
XM_006722721.2:c.1075C>T XP_006722784.1:p.Gln359Ter
XM_011527899.1:c.1075C>T XP_011526201.1:p.Gln359Ter
XM_011527899.2:c.1075C>T XP_011526201.1:p.Gln359Ter
XM_011527900.1:c.1075C>T XP_011526202.1:p.Gln359Ter
XM_011527900.2:c.1075C>T XP_011526202.1:p.Gln359Ter
XM_017026580.1:c.1075C>T XP_016882069.1:p.Gln359Ter