Canonical Allele Identifier: CA9234537

Gene: GCDH

Linked Data

• ClinVar Variation Id: 750633
• ClinVar RCV Id: RCV000927620 ; RCV001547078
• dbSNP Id: rs539505767
• ExAC: 19:13007757 G / A
• gnomAD v2: 19-13007757-G-A
• gnomAD v3: 19-12896943-G-A
• gnomAD v4: 19-12896943-G-A
• COSMIC: COSM4597004 ; COSM4597005 ; COSM4597006
• MyVariant Identifiers: chr19:g.13007757G>A (hg19) ; chr19:g.12896943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896943G>A , CM000681.2:g.12896943G>A	GRCh38
NC_000019.9:g.13007757G>A , CM000681.1:g.13007757G>A	GRCh37
NC_000019.8:g.12868757G>A	NCBI36
NG_009292.1:g.10784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.886G>A MANE Select	ENSP00000222214.4:p.Gly296Ser
ENST00000222214.9:c.886G>A	ENSP00000222214.4:p.Gly296Ser
ENST00000421816.6:n.864G>A
ENST00000585420.5:n.1216G>A
ENST00000590530.5:c.*326G>A	ENSP00000468452.1:n.*326G>A
ENST00000591043.1:n.922G>A
ENST00000591470.5:c.886G>A	ENSP00000466845.1:p.Gly296Ser
NM_000159.3:c.886G>A	NP_000150.1:p.Gly296Ser
NM_013976.3:c.886G>A	NP_039663.1:p.Gly296Ser
NR_102316.1:n.1049G>A
NR_102317.1:n.1267G>A
XM_006722721.2:c.886G>A	XP_006722784.1:p.Gly296Ser
XM_011527899.1:c.886G>A	XP_011526201.1:p.Gly296Ser
XM_011527900.1:c.886G>A	XP_011526202.1:p.Gly296Ser
XM_011527899.2:c.886G>A	XP_011526201.1:p.Gly296Ser
XM_011527900.2:c.886G>A	XP_011526202.1:p.Gly296Ser
XM_017026580.1:c.886G>A	XP_016882069.1:p.Gly296Ser
NM_000159.4:c.886G>A MANE Select	NP_000150.1:p.Gly296Ser
NM_013976.4:c.886G>A	NP_039663.1:p.Gly296Ser
NM_013976.5:c.886G>A	NP_039663.1:p.Gly296Ser