Canonical Allele Identifier: CA505778564
Gene: GCDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.13007128A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896314A>C , CM000681.2:g.12896314A>C GRCh38
NC_000019.9:g.13007128A>C , CM000681.1:g.13007128A>C GRCh37
NC_000019.8:g.12868128A>C NCBI36
NG_009292.1:g.10155A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.745A>C MANE Select ENSP00000222214.4:p.Arg249=
ENST00000222214.9:c.745A>C ENSP00000222214.4:p.Arg249=
ENST00000421816.6:n.723A>C
ENST00000585420.5:n.1075A>C
ENST00000590530.5:c.*185A>C ENSP00000468452.1:n.*185A>C
ENST00000591043.1:n.781A>C
ENST00000591470.5:c.745A>C ENSP00000466845.1:p.Arg249=
NM_000159.3:c.745A>C NP_000150.1:p.Arg249=
NM_013976.3:c.745A>C NP_039663.1:p.Arg249=
NR_102316.1:n.908A>C
NR_102317.1:n.1126A>C
XM_006722721.2:c.745A>C XP_006722784.1:p.Arg249=
XM_011527899.1:c.745A>C XP_011526201.1:p.Arg249=
XM_011527900.1:c.745A>C XP_011526202.1:p.Arg249=
XM_011527899.2:c.745A>C XP_011526201.1:p.Arg249=
XM_011527900.2:c.745A>C XP_011526202.1:p.Arg249=
XM_017026580.1:c.745A>C XP_016882069.1:p.Arg249=
NM_000159.4:c.745A>C MANE Select NP_000150.1:p.Arg249=
NM_013976.4:c.745A>C NP_039663.1:p.Arg249=
NM_013976.5:c.745A>C NP_039663.1:p.Arg249=