Canonical Allele Identifier: CA16041969

Gene: GCDH

Linked Data

• ClinVar Variation Id: 370719
• ClinVar RCV Id: RCV000412058
• dbSNP Id: rs1057516715
• COSMIC: COSM4498194 ; COSM4498195 ; COSM4498196
• MyVariant Identifiers: chr19:g.13006814G>T (hg19) ; chr19:g.12896000G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896000G>T , CM000681.2:g.12896000G>T	GRCh38
NC_000019.9:g.13006814G>T , CM000681.1:g.13006814G>T	GRCh37
NC_000019.8:g.12867814G>T	NCBI36
NG_009292.1:g.9841G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.514G>T MANE Select	ENSP00000222214.4:p.Glu172Ter
ENST00000222214.9:c.514G>T	ENSP00000222214.4:p.Glu172Ter
ENST00000421816.6:n.492G>T
ENST00000585420.5:n.879G>T
ENST00000588905.5:c.478G>T	ENSP00000465770.1:p.Glu160Ter
ENST00000590530.5:c.569G>T	ENSP00000468452.1:p.Gly190Val
ENST00000591043.1:n.550G>T
ENST00000591470.5:c.514G>T	ENSP00000466845.1:p.Glu172Ter
NM_000159.3:c.514G>T	NP_000150.1:p.Glu172Ter
NM_013976.3:c.514G>T	NP_039663.1:p.Glu172Ter
NR_102316.1:n.677G>T
NR_102317.1:n.930G>T
XM_006722721.2:c.514G>T	XP_006722784.1:p.Glu172Ter
XM_011527899.1:c.514G>T	XP_011526201.1:p.Glu172Ter
XM_011527900.1:c.514G>T	XP_011526202.1:p.Glu172Ter
XM_011527899.2:c.514G>T	XP_011526201.1:p.Glu172Ter
XM_011527900.2:c.514G>T	XP_011526202.1:p.Glu172Ter
XM_017026580.1:c.514G>T	XP_016882069.1:p.Glu172Ter
NM_000159.4:c.514G>T MANE Select	NP_000150.1:p.Glu172Ter
NM_013976.4:c.514G>T	NP_039663.1:p.Glu172Ter
NM_013976.5:c.514G>T	NP_039663.1:p.Glu172Ter