Canonical Allele Identifier: CA404317635
Community Standard Title: NM_000159.4(GCDH):c.478C>T (p.Gln160Ter)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893626C>T , CM000681.2:g.12893626C>T GRCh38
NC_000019.9:g.13004440C>T , CM000681.1:g.13004440C>T GRCh37
NC_000019.8:g.12865440C>T NCBI36
NG_009292.1:g.7467C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.478C>T MANE Select NP_000150.1:p.Gln160Ter
ENST00000222214.10:c.478C>T MANE Select ENSP00000222214.4:p.Gln160Ter
NM_000159.3:c.478C>T NP_000150.1:p.Gln160Ter
NM_013976.3:c.478C>T NP_039663.1:p.Gln160Ter
NM_013976.4:c.478C>T NP_039663.1:p.Gln160Ter
NM_013976.5:c.478C>T NP_039663.1:p.Gln160Ter
NR_102316.1:n.641C>T
NR_102317.1:n.894C>T
ENST00000222214.9:c.478C>T ENSP00000222214.4:p.Gln160Ter
ENST00000421816.6:n.456C>T
ENST00000585420.5:n.843C>T
ENST00000587832.5:n.535C>T
ENST00000588905.5:c.442C>T ENSP00000465770.1:p.Gln148Ter
ENST00000589039.5:c.415C>T ENSP00000465618.1:p.Gln139Ter
ENST00000590530.5:c.533C>T ENSP00000468452.1:p.Thr178Ile
ENST00000590627.5:n.843C>T
ENST00000591043.1:n.514C>T
ENST00000591470.5:c.478C>T ENSP00000466845.1:p.Gln160Ter
XM_006722721.2:c.478C>T XP_006722784.1:p.Gln160Ter
XM_011527899.1:c.478C>T XP_011526201.1:p.Gln160Ter
XM_011527899.2:c.478C>T XP_011526201.1:p.Gln160Ter
XM_011527900.1:c.478C>T XP_011526202.1:p.Gln160Ter
XM_011527900.2:c.478C>T XP_011526202.1:p.Gln160Ter
XM_017026580.1:c.478C>T XP_016882069.1:p.Gln160Ter