Canonical Allele Identifier: CA404319652
Gene: GCDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897010A>T , CM000681.2:g.12897010A>T GRCh38
NC_000019.9:g.13007824A>T , CM000681.1:g.13007824A>T GRCh37
NC_000019.8:g.12868824A>T NCBI36
NG_009292.1:g.10851A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.953A>T MANE Select ENSP00000222214.4:p.Asp318Val
ENST00000222214.9:c.953A>T ENSP00000222214.4:p.Asp318Val
ENST00000421816.6:n.931A>T
ENST00000585420.5:n.1283A>T
ENST00000590530.5:c.*393A>T ENSP00000468452.1:n.*393A>T
ENST00000591043.1:n.989A>T
ENST00000591470.5:c.953A>T ENSP00000466845.1:p.Asp318Val
NM_000159.3:c.953A>T NP_000150.1:p.Asp318Val
NM_013976.3:c.953A>T NP_039663.1:p.Asp318Val
NR_102316.1:n.1116A>T
NR_102317.1:n.1334A>T
XM_006722721.2:c.953A>T XP_006722784.1:p.Asp318Val
XM_011527899.1:c.953A>T XP_011526201.1:p.Asp318Val
XM_011527900.1:c.953A>T XP_011526202.1:p.Asp318Val
XM_011527899.2:c.953A>T XP_011526201.1:p.Asp318Val
XM_011527900.2:c.953A>T XP_011526202.1:p.Asp318Val
XM_017026580.1:c.953A>T XP_016882069.1:p.Asp318Val
NM_000159.4:c.953A>T MANE Select NP_000150.1:p.Asp318Val
NM_013976.4:c.953A>T NP_039663.1:p.Asp318Val
NM_013976.5:c.953A>T NP_039663.1:p.Asp318Val