Canonical Allele Identifier: CA273961

Gene: GCDH

Linked Data

• ClinVar Variation Id: 188789
• ClinVar RCV Id: RCV000169118 ; RCV000725818
• dbSNP Id: rs777201305
• ExAC: 19:13004444 G / A
• gnomAD v2: 19-13004444-G-A
• gnomAD v3: 19-12893630-G-A
• gnomAD v4: 19-12893630-G-A
• COSMIC: COSM6304597 ; COSM6304598 ; COSM6304599
• MyVariant Identifiers: chr19:g.13004444G>A (hg19) ; chr19:g.12893630G>A (hg38)
• PubMed: PMID:8900227 ; PMID:9600243 ; PMID:9711871 ; PMID:10699052 ; PMID:10960496 ; PMID:15505393 ; PMID:16488172 ; PMID:19433437 ; PMID:20836999 ; PMID:21031586 ; PMID:23891399 ; PMID:24332224

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893630G>A , CM000681.2:g.12893630G>A	GRCh38
NC_000019.9:g.13004444G>A , CM000681.1:g.13004444G>A	GRCh37
NC_000019.8:g.12865444G>A	NCBI36
NG_009292.1:g.7471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.482G>A MANE Select	ENSP00000222214.4:p.Arg161Gln
ENST00000222214.9:c.482G>A	ENSP00000222214.4:p.Arg161Gln
ENST00000421816.6:n.460G>A
ENST00000585420.5:n.847G>A
ENST00000587832.5:n.539G>A
ENST00000588905.5:c.446G>A	ENSP00000465770.1:p.Arg149Gln
ENST00000589039.5:c.419G>A	ENSP00000465618.1:p.Arg140Gln
ENST00000590530.5:c.537G>A	ENSP00000468452.1:p.Ala179=
ENST00000590627.5:n.847G>A
ENST00000591043.1:n.518G>A
ENST00000591470.5:c.482G>A	ENSP00000466845.1:p.Arg161Gln
NM_000159.3:c.482G>A	NP_000150.1:p.Arg161Gln
NM_013976.3:c.482G>A	NP_039663.1:p.Arg161Gln
NR_102316.1:n.645G>A
NR_102317.1:n.898G>A
XM_006722721.2:c.482G>A	XP_006722784.1:p.Arg161Gln
XM_011527899.1:c.482G>A	XP_011526201.1:p.Arg161Gln
XM_011527900.1:c.482G>A	XP_011526202.1:p.Arg161Gln
XM_011527899.2:c.482G>A	XP_011526201.1:p.Arg161Gln
XM_011527900.2:c.482G>A	XP_011526202.1:p.Arg161Gln
XM_017026580.1:c.482G>A	XP_016882069.1:p.Arg161Gln
NM_000159.4:c.482G>A MANE Select	NP_000150.1:p.Arg161Gln
NM_013976.4:c.482G>A	NP_039663.1:p.Arg161Gln
NM_013976.5:c.482G>A	NP_039663.1:p.Arg161Gln