Canonical Allele Identifier: CA274948

Gene: GCDH

Linked Data

• ClinVar Variation Id: 193798
• ClinVar RCV Id: RCV000173982 ; RCV000414299 ; RCV003955020
• dbSNP Id: rs141437721
• ExAC: 19:13008647 A / G
• gnomAD v2: 19-13008647-A-G
• gnomAD v3: 19-12897833-A-G
• gnomAD v4: 19-12897833-A-G
• MyVariant Identifiers: chr19:g.13008647A>G (hg19) ; chr19:g.13008647_13008662delinsGTGAACCTGGAGGCCG (hg19) ; chr19:g.12897833A>G (hg38)
• PubMed: PMID:17188916 ; PMID:19433275 ; PMID:21031586 ; PMID:23891399 ; PMID:25590979 ; PMID:27397597

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897833A>G , CM000681.2:g.12897833A>G	GRCh38
NC_000019.9:g.13008647A>G , CM000681.1:g.13008647A>G	GRCh37
NC_000019.8:g.12869647A>G	NCBI36
NG_009292.1:g.11674A>G
NG_033049.1:g.26440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1213A>G MANE Select	ENSP00000222214.4:p.Met405Val
ENST00000222214.9:c.1213A>G	ENSP00000222214.4:p.Met405Val
ENST00000585420.5:n.1543A>G
ENST00000590472.5:c.257A>G
ENST00000590530.5:c.*653A>G	ENSP00000468452.1:n.*653A>G
ENST00000591043.1:n.1523A>G
ENST00000591050.1:c.180A>G
ENST00000591470.5:c.1213A>G	ENSP00000466845.1:p.Met405Val
NM_000159.3:c.1213A>G	NP_000150.1:p.Met405Val
NM_013976.3:c.1213A>G	NP_039663.1:p.Met405Val
NR_102316.1:n.1376A>G
NR_102317.1:n.1594A>G
XM_006722721.2:c.1213A>G	XP_006722784.1:p.Met405Val
XM_011527899.1:c.1213A>G	XP_011526201.1:p.Met405Val
XM_011527900.1:c.1213A>G	XP_011526202.1:p.Met405Val
XM_011527899.2:c.1213A>G	XP_011526201.1:p.Met405Val
XM_011527900.2:c.1213A>G	XP_011526202.1:p.Met405Val
XM_017026580.1:c.1213A>G	XP_016882069.1:p.Met405Val
NM_000159.4:c.1213A>G MANE Select	NP_000150.1:p.Met405Val
NM_013976.4:c.1213A>G	NP_039663.1:p.Met405Val
NM_013976.5:c.1213A>G	NP_039663.1:p.Met405Val