Canonical Allele Identifier: CA404321795
Community Standard Title: NM_000159.4(GCDH):c.1209C>G (p.His403Gln)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897829C>G , CM000681.2:g.12897829C>G GRCh38
NC_000019.9:g.13008643C>G , CM000681.1:g.13008643C>G GRCh37
NC_000019.8:g.12869643C>G NCBI36
NG_009292.1:g.11670C>G
NG_033049.1:g.26444G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.1209C>G MANE Select NP_000150.1:p.His403Gln
ENST00000222214.10:c.1209C>G MANE Select ENSP00000222214.4:p.His403Gln
NM_000159.3:c.1209C>G NP_000150.1:p.His403Gln
NM_013976.3:c.1209C>G NP_039663.1:p.His403Gln
NM_013976.4:c.1209C>G NP_039663.1:p.His403Gln
NM_013976.5:c.1209C>G NP_039663.1:p.His403Gln
NR_102316.1:n.1372C>G
NR_102317.1:n.1590C>G
ENST00000222214.9:c.1209C>G ENSP00000222214.4:p.His403Gln
ENST00000585420.5:n.1539C>G
ENST00000590472.5:c.253C>G
ENST00000590530.5:c.*649C>G ENSP00000468452.1:n.*649C>G
ENST00000591043.1:n.1519C>G
ENST00000591050.1:c.176C>G
ENST00000591470.5:c.1209C>G ENSP00000466845.1:p.His403Gln
XM_006722721.2:c.1209C>G XP_006722784.1:p.His403Gln
XM_011527899.1:c.1209C>G XP_011526201.1:p.His403Gln
XM_011527899.2:c.1209C>G XP_011526201.1:p.His403Gln
XM_011527900.1:c.1209C>G XP_011526202.1:p.His403Gln
XM_011527900.2:c.1209C>G XP_011526202.1:p.His403Gln
XM_017026580.1:c.1209C>G XP_016882069.1:p.His403Gln