Canonical Allele Identifier: CA505648344

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1580664
• ClinVar RCV Id: RCV002085929
• dbSNP Id: rs2145952706
• gnomAD v4: 19-12896927-G-A
• MyVariant Identifiers: chr19:g.13007741G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896927G>A , CM000681.2:g.12896927G>A	GRCh38
NC_000019.9:g.13007741G>A , CM000681.1:g.13007741G>A	GRCh37
NC_000019.8:g.12868741G>A	NCBI36
NG_009292.1:g.10768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.870G>A MANE Select	ENSP00000222214.4:p.Leu290=
ENST00000222214.9:c.870G>A	ENSP00000222214.4:p.Leu290=
ENST00000421816.6:n.848G>A
ENST00000585420.5:n.1200G>A
ENST00000590530.5:c.*310G>A	ENSP00000468452.1:n.*310G>A
ENST00000591043.1:n.906G>A
ENST00000591470.5:c.870G>A	ENSP00000466845.1:p.Leu290=
NM_000159.3:c.870G>A	NP_000150.1:p.Leu290=
NM_013976.3:c.870G>A	NP_039663.1:p.Leu290=
NR_102316.1:n.1033G>A
NR_102317.1:n.1251G>A
XM_006722721.2:c.870G>A	XP_006722784.1:p.Leu290=
XM_011527899.1:c.870G>A	XP_011526201.1:p.Leu290=
XM_011527900.1:c.870G>A	XP_011526202.1:p.Leu290=
XM_011527899.2:c.870G>A	XP_011526201.1:p.Leu290=
XM_011527900.2:c.870G>A	XP_011526202.1:p.Leu290=
XM_017026580.1:c.870G>A	XP_016882069.1:p.Leu290=
NM_000159.4:c.870G>A MANE Select	NP_000150.1:p.Leu290=
NM_013976.4:c.870G>A	NP_039663.1:p.Leu290=
NM_013976.5:c.870G>A	NP_039663.1:p.Leu290=