Canonical Allele Identifier: CA9234463
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 951653
ClinVar RCV Id: RCV001223617
dbSNP Id: rs121434373

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896249G>A , CM000681.2:g.12896249G>A GRCh38
NC_000019.9:g.13007063G>A , CM000681.1:g.13007063G>A GRCh37
NC_000019.8:g.12868063G>A NCBI36
NG_009292.1:g.10090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.680G>A MANE Select ENSP00000222214.4:p.Arg227Gln
ENST00000222214.9:c.680G>A ENSP00000222214.4:p.Arg227Gln
ENST00000421816.6:n.658G>A
ENST00000585420.5:n.1010G>A
ENST00000590530.5:c.*120G>A ENSP00000468452.1:n.*120G>A
ENST00000591043.1:n.716G>A
ENST00000591470.5:c.680G>A ENSP00000466845.1:p.Arg227Gln
NM_000159.3:c.680G>A NP_000150.1:p.Arg227Gln
NM_013976.3:c.680G>A NP_039663.1:p.Arg227Gln
NR_102316.1:n.843G>A
NR_102317.1:n.1061G>A
XM_006722721.2:c.680G>A XP_006722784.1:p.Arg227Gln
XM_011527899.1:c.680G>A XP_011526201.1:p.Arg227Gln
XM_011527900.1:c.680G>A XP_011526202.1:p.Arg227Gln
XM_011527899.2:c.680G>A XP_011526201.1:p.Arg227Gln
XM_011527900.2:c.680G>A XP_011526202.1:p.Arg227Gln
XM_017026580.1:c.680G>A XP_016882069.1:p.Arg227Gln
NM_000159.4:c.680G>A MANE Select NP_000150.1:p.Arg227Gln
NM_013976.4:c.680G>A NP_039663.1:p.Arg227Gln
NM_013976.5:c.680G>A NP_039663.1:p.Arg227Gln