Canonical Allele Identifier: CA404319143
Community Standard Title: NM_000159.4(GCDH):c.833C>G (p.Pro278Arg)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896402C>G , CM000681.2:g.12896402C>G GRCh38
NC_000019.9:g.13007216C>G , CM000681.1:g.13007216C>G GRCh37
NC_000019.8:g.12868216C>G NCBI36
NG_009292.1:g.10243C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.833C>G MANE Select NP_000150.1:p.Pro278Arg
ENST00000222214.10:c.833C>G MANE Select ENSP00000222214.4:p.Pro278Arg
NM_000159.3:c.833C>G NP_000150.1:p.Pro278Arg
NM_013976.3:c.833C>G NP_039663.1:p.Pro278Arg
NM_013976.4:c.833C>G NP_039663.1:p.Pro278Arg
NM_013976.5:c.833C>G NP_039663.1:p.Pro278Arg
NR_102316.1:n.996C>G
NR_102317.1:n.1214C>G
ENST00000222214.9:c.833C>G ENSP00000222214.4:p.Pro278Arg
ENST00000421816.6:n.811C>G
ENST00000585420.5:n.1163C>G
ENST00000590530.5:c.*273C>G ENSP00000468452.1:n.*273C>G
ENST00000591043.1:n.869C>G
ENST00000591470.5:c.833C>G ENSP00000466845.1:p.Pro278Arg
XM_006722721.2:c.833C>G XP_006722784.1:p.Pro278Arg
XM_011527899.1:c.833C>G XP_011526201.1:p.Pro278Arg
XM_011527899.2:c.833C>G XP_011526201.1:p.Pro278Arg
XM_011527900.1:c.833C>G XP_011526202.1:p.Pro278Arg
XM_011527900.2:c.833C>G XP_011526202.1:p.Pro278Arg
XM_017026580.1:c.833C>G XP_016882069.1:p.Pro278Arg