Canonical Allele Identifier: CA274331

Gene: GCDH

Linked Data

• ClinVar Variation Id: 189063
• ClinVar RCV Id: RCV000169460
• dbSNP Id: rs755586631
• ExAC: 19:13004345 G / A
• gnomAD v2: 19-13004345-G-A
• gnomAD v3: 19-12893531-G-A
• gnomAD v4: 19-12893531-G-A
• MyVariant Identifiers: chr19:g.13004345G>A (hg19) ; chr19:g.12893531G>A (hg38)
• PubMed: PMID:10699052 ; PMID:18459892 ; PMID:18683078 ; PMID:19433437 ; PMID:21176883 ; PMID:25255367

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893531G>A , CM000681.2:g.12893531G>A	GRCh38
NC_000019.9:g.13004345G>A , CM000681.1:g.13004345G>A	GRCh37
NC_000019.8:g.12865345G>A	NCBI36
NG_009292.1:g.7372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.383G>A MANE Select	ENSP00000222214.4:p.Arg128Gln
ENST00000222214.9:c.383G>A	ENSP00000222214.4:p.Arg128Gln
ENST00000421816.6:n.361G>A
ENST00000585420.5:n.748G>A
ENST00000587832.5:n.440G>A
ENST00000588905.5:c.347G>A	ENSP00000465770.1:p.Arg116Gln
ENST00000589039.5:c.320G>A	ENSP00000465618.1:p.Arg107Gln
ENST00000590530.5:c.438G>A	ENSP00000468452.1:p.Pro146=
ENST00000590627.5:n.748G>A
ENST00000591043.1:n.419G>A
ENST00000591470.5:c.383G>A	ENSP00000466845.1:p.Arg128Gln
NM_000159.3:c.383G>A	NP_000150.1:p.Arg128Gln
NM_013976.3:c.383G>A	NP_039663.1:p.Arg128Gln
NR_102316.1:n.546G>A
NR_102317.1:n.799G>A
XM_006722721.2:c.383G>A	XP_006722784.1:p.Arg128Gln
XM_011527899.1:c.383G>A	XP_011526201.1:p.Arg128Gln
XM_011527900.1:c.383G>A	XP_011526202.1:p.Arg128Gln
XM_011527899.2:c.383G>A	XP_011526201.1:p.Arg128Gln
XM_011527900.2:c.383G>A	XP_011526202.1:p.Arg128Gln
XM_017026580.1:c.383G>A	XP_016882069.1:p.Arg128Gln
NM_000159.4:c.383G>A MANE Select	NP_000150.1:p.Arg128Gln
NM_013976.4:c.383G>A	NP_039663.1:p.Arg128Gln
NM_013976.5:c.383G>A	NP_039663.1:p.Arg128Gln