Canonical Allele Identifier: CA9234466

Gene: GCDH

Linked Data

• dbSNP Id: rs781028827
• ExAC: 19:13007078 G / A
• gnomAD v2: 19-13007078-G-A
• gnomAD v4: 19-12896264-G-A
• MyVariant Identifiers: chr19:g.13007078G>A (hg19) ; chr19:g.12896264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896264G>A , CM000681.2:g.12896264G>A	GRCh38
NC_000019.9:g.13007078G>A , CM000681.1:g.13007078G>A	GRCh37
NC_000019.8:g.12868078G>A	NCBI36
NG_009292.1:g.10105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.695G>A MANE Select	ENSP00000222214.4:p.Cys232Tyr
ENST00000222214.9:c.695G>A	ENSP00000222214.4:p.Cys232Tyr
ENST00000421816.6:n.673G>A
ENST00000585420.5:n.1025G>A
ENST00000590530.5:c.*135G>A	ENSP00000468452.1:n.*135G>A
ENST00000591043.1:n.731G>A
ENST00000591470.5:c.695G>A	ENSP00000466845.1:p.Cys232Tyr
NM_000159.3:c.695G>A	NP_000150.1:p.Cys232Tyr
NM_013976.3:c.695G>A	NP_039663.1:p.Cys232Tyr
NR_102316.1:n.858G>A
NR_102317.1:n.1076G>A
XM_006722721.2:c.695G>A	XP_006722784.1:p.Cys232Tyr
XM_011527899.1:c.695G>A	XP_011526201.1:p.Cys232Tyr
XM_011527900.1:c.695G>A	XP_011526202.1:p.Cys232Tyr
XM_011527899.2:c.695G>A	XP_011526201.1:p.Cys232Tyr
XM_011527900.2:c.695G>A	XP_011526202.1:p.Cys232Tyr
XM_017026580.1:c.695G>A	XP_016882069.1:p.Cys232Tyr
NM_000159.4:c.695G>A MANE Select	NP_000150.1:p.Cys232Tyr
NM_013976.4:c.695G>A	NP_039663.1:p.Cys232Tyr
NM_013976.5:c.695G>A	NP_039663.1:p.Cys232Tyr