Canonical Allele Identifier: CA9234445

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2753999
• ClinVar RCV Id: RCV003498413
• dbSNP Id: rs746858566
• ExAC: 19:13006947 G / A
• gnomAD v2: 19-13006947-G-A
• gnomAD v4: 19-12896133-G-A
• MyVariant Identifiers: chr19:g.13006947G>A (hg19) ; chr19:g.12896133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896133G>A , CM000681.2:g.12896133G>A	GRCh38
NC_000019.9:g.13006947G>A , CM000681.1:g.13006947G>A	GRCh37
NC_000019.8:g.12867947G>A	NCBI36
NG_009292.1:g.9974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.635+12G>A MANE Select	ENSP00000222214.4:n.635+12G>A
ENST00000222214.9:c.635+12G>A	ENSP00000222214.4:n.635+12G>A
ENST00000421816.6:n.613+12G>A
ENST00000585420.5:n.1000+12G>A
ENST00000590530.5:c.*75+12G>A	ENSP00000468452.1:n.*75+12G>A
ENST00000591043.1:n.671+12G>A
ENST00000591470.5:c.635+12G>A	ENSP00000466845.1:n.635+12G>A
NM_000159.3:c.635+12G>A	NP_000150.1:n.635+12G>A
NM_013976.3:c.635+12G>A	NP_039663.1:n.635+12G>A
NR_102316.1:n.798+12G>A
NR_102317.1:n.1051+12G>A
XM_006722721.2:c.635+12G>A	XP_006722784.1:n.635+12G>A
XM_011527899.1:c.635+12G>A	XP_011526201.1:n.635+12G>A
XM_011527900.1:c.635+12G>A	XP_011526202.1:n.635+12G>A
XM_011527899.2:c.635+12G>A	XP_011526201.1:n.635+12G>A
XM_011527900.2:c.635+12G>A	XP_011526202.1:n.635+12G>A
XM_017026580.1:c.635+12G>A	XP_016882069.1:n.635+12G>A
NM_000159.4:c.635+12G>A MANE Select	NP_000150.1:n.635+12G>A
NM_013976.4:c.635+12G>A	NP_039663.1:n.635+12G>A
NM_013976.5:c.635+12G>A	NP_039663.1:n.635+12G>A