Canonical Allele Identifier: CA305500646

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1416120
• ClinVar RCV Id: RCV001935537
• dbSNP Id: rs575325364
• gnomAD v4: 19-12896257-G-A
• MyVariant Identifiers: chr19:g.13007071G>A (hg19) ; chr19:g.12896257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896257G>A , CM000681.2:g.12896257G>A	GRCh38
NC_000019.9:g.13007071G>A , CM000681.1:g.13007071G>A	GRCh37
NC_000019.8:g.12868071G>A	NCBI36
NG_009292.1:g.10098G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.688G>A MANE Select	ENSP00000222214.4:p.Asp230Asn
ENST00000222214.9:c.688G>A	ENSP00000222214.4:p.Asp230Asn
ENST00000421816.6:n.666G>A
ENST00000585420.5:n.1018G>A
ENST00000590530.5:c.*128G>A	ENSP00000468452.1:n.*128G>A
ENST00000591043.1:n.724G>A
ENST00000591470.5:c.688G>A	ENSP00000466845.1:p.Asp230Asn
NM_000159.3:c.688G>A	NP_000150.1:p.Asp230Asn
NM_013976.3:c.688G>A	NP_039663.1:p.Asp230Asn
NR_102316.1:n.851G>A
NR_102317.1:n.1069G>A
XM_006722721.2:c.688G>A	XP_006722784.1:p.Asp230Asn
XM_011527899.1:c.688G>A	XP_011526201.1:p.Asp230Asn
XM_011527900.1:c.688G>A	XP_011526202.1:p.Asp230Asn
XM_011527899.2:c.688G>A	XP_011526201.1:p.Asp230Asn
XM_011527900.2:c.688G>A	XP_011526202.1:p.Asp230Asn
XM_017026580.1:c.688G>A	XP_016882069.1:p.Asp230Asn
NM_000159.4:c.688G>A MANE Select	NP_000150.1:p.Asp230Asn
NM_013976.4:c.688G>A	NP_039663.1:p.Asp230Asn
NM_013976.5:c.688G>A	NP_039663.1:p.Asp230Asn