Canonical Allele Identifier: CA9234552

Gene: GCDH

Linked Data

• ClinVar Variation Id: 967475
• ClinVar RCV Id: RCV001242396 ; RCV002375281
• dbSNP Id: rs761135089
• ExAC: 19:13007823 G / A
• gnomAD v2: 19-13007823-G-A
• gnomAD v3: 19-12897009-G-A
• gnomAD v4: 19-12897009-G-A
• MyVariant Identifiers: chr19:g.13007823G>A (hg19) ; chr19:g.12897009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897009G>A , CM000681.2:g.12897009G>A	GRCh38
NC_000019.9:g.13007823G>A , CM000681.1:g.13007823G>A	GRCh37
NC_000019.8:g.12868823G>A	NCBI36
NG_009292.1:g.10850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.952G>A MANE Select	ENSP00000222214.4:p.Asp318Asn
ENST00000222214.9:c.952G>A	ENSP00000222214.4:p.Asp318Asn
ENST00000421816.6:n.930G>A
ENST00000585420.5:n.1282G>A
ENST00000590530.5:c.*392G>A	ENSP00000468452.1:n.*392G>A
ENST00000591043.1:n.988G>A
ENST00000591470.5:c.952G>A	ENSP00000466845.1:p.Asp318Asn
NM_000159.3:c.952G>A	NP_000150.1:p.Asp318Asn
NM_013976.3:c.952G>A	NP_039663.1:p.Asp318Asn
NR_102316.1:n.1115G>A
NR_102317.1:n.1333G>A
XM_006722721.2:c.952G>A	XP_006722784.1:p.Asp318Asn
XM_011527899.1:c.952G>A	XP_011526201.1:p.Asp318Asn
XM_011527900.1:c.952G>A	XP_011526202.1:p.Asp318Asn
XM_011527899.2:c.952G>A	XP_011526201.1:p.Asp318Asn
XM_011527900.2:c.952G>A	XP_011526202.1:p.Asp318Asn
XM_017026580.1:c.952G>A	XP_016882069.1:p.Asp318Asn
NM_000159.4:c.952G>A MANE Select	NP_000150.1:p.Asp318Asn
NM_013976.4:c.952G>A	NP_039663.1:p.Asp318Asn
NM_013976.5:c.952G>A	NP_039663.1:p.Asp318Asn