Canonical Allele Identifier: CA404318783
Gene: GCDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896308G>C , CM000681.2:g.12896308G>C GRCh38
NC_000019.9:g.13007122G>C , CM000681.1:g.13007122G>C GRCh37
NC_000019.8:g.12868122G>C NCBI36
NG_009292.1:g.10149G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.739G>C MANE Select ENSP00000222214.4:p.Ala247Pro
ENST00000222214.9:c.739G>C ENSP00000222214.4:p.Ala247Pro
ENST00000421816.6:n.717G>C
ENST00000585420.5:n.1069G>C
ENST00000590530.5:c.*179G>C ENSP00000468452.1:n.*179G>C
ENST00000591043.1:n.775G>C
ENST00000591470.5:c.739G>C ENSP00000466845.1:p.Ala247Pro
NM_000159.3:c.739G>C NP_000150.1:p.Ala247Pro
NM_013976.3:c.739G>C NP_039663.1:p.Ala247Pro
NR_102316.1:n.902G>C
NR_102317.1:n.1120G>C
XM_006722721.2:c.739G>C XP_006722784.1:p.Ala247Pro
XM_011527899.1:c.739G>C XP_011526201.1:p.Ala247Pro
XM_011527900.1:c.739G>C XP_011526202.1:p.Ala247Pro
XM_011527899.2:c.739G>C XP_011526201.1:p.Ala247Pro
XM_011527900.2:c.739G>C XP_011526202.1:p.Ala247Pro
XM_017026580.1:c.739G>C XP_016882069.1:p.Ala247Pro
NM_000159.4:c.739G>C MANE Select NP_000150.1:p.Ala247Pro
NM_013976.4:c.739G>C NP_039663.1:p.Ala247Pro
NM_013976.5:c.739G>C NP_039663.1:p.Ala247Pro