Canonical Allele Identifier: CA404318460

Gene: GCDH

Linked Data

• ClinVar Variation Id: 862517
• ClinVar RCV Id: RCV001069251
• dbSNP Id: rs1970674860
• MyVariant Identifiers: chr19:g.13007026A>G (hg19) ; chr19:g.12896212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896212A>G , CM000681.2:g.12896212A>G	GRCh38
NC_000019.9:g.13007026A>G , CM000681.1:g.13007026A>G	GRCh37
NC_000019.8:g.12868026A>G	NCBI36
NG_009292.1:g.10053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.643A>G MANE Select	ENSP00000222214.4:p.Asn215Asp
ENST00000222214.9:c.643A>G	ENSP00000222214.4:p.Asn215Asp
ENST00000421816.6:n.621A>G
ENST00000585420.5:n.1001-28A>G
ENST00000590530.5:c.*83A>G	ENSP00000468452.1:n.*83A>G
ENST00000591043.1:n.679A>G
ENST00000591470.5:c.643A>G	ENSP00000466845.1:p.Asn215Asp
NM_000159.3:c.643A>G	NP_000150.1:p.Asn215Asp
NM_013976.3:c.643A>G	NP_039663.1:p.Asn215Asp
NR_102316.1:n.806A>G
NR_102317.1:n.1052-28A>G
XM_006722721.2:c.643A>G	XP_006722784.1:p.Asn215Asp
XM_011527899.1:c.643A>G	XP_011526201.1:p.Asn215Asp
XM_011527900.1:c.643A>G	XP_011526202.1:p.Asn215Asp
XM_011527899.2:c.643A>G	XP_011526201.1:p.Asn215Asp
XM_011527900.2:c.643A>G	XP_011526202.1:p.Asn215Asp
XM_017026580.1:c.643A>G	XP_016882069.1:p.Asn215Asp
NM_000159.4:c.643A>G MANE Select	NP_000150.1:p.Asn215Asp
NM_013976.4:c.643A>G	NP_039663.1:p.Asn215Asp
NM_013976.5:c.643A>G	NP_039663.1:p.Asn215Asp