Canonical Allele Identifier: CA404315075

Gene: GCDH

Linked Data

• ClinVar Variation Id: 550794
• ClinVar RCV Id: RCV000665639
• dbSNP Id: rs1555749239
• MyVariant Identifiers: chr19:g.13002709G>T (hg19) ; chr19:g.12891895G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891895G>T , CM000681.2:g.12891895G>T	GRCh38
NC_000019.9:g.13002709G>T , CM000681.1:g.13002709G>T	GRCh37
NC_000019.8:g.12863709G>T	NCBI36
NG_009292.1:g.5736G>T
NG_013087.1:g.309C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.192G>T MANE Select	ENSP00000222214.4:p.Glu64Asp
ENST00000222214.9:c.192G>T	ENSP00000222214.4:p.Glu64Asp
ENST00000421816.6:n.233G>T
ENST00000585420.5:n.557G>T
ENST00000585760.5:n.228G>T
ENST00000587072.1:c.192G>T	ENSP00000468584.1:p.Glu64Asp
ENST00000587832.5:n.249G>T
ENST00000588905.5:c.156G>T	ENSP00000465770.1:p.Glu52Asp
ENST00000589039.5:c.192G>T	ENSP00000465618.1:p.Glu64Asp
ENST00000590445.5:c.*69G>T	ENSP00000468125.1:n.*69G>T
ENST00000590530.5:c.192G>T	ENSP00000468452.1:p.Glu64Asp
ENST00000590627.5:n.557G>T
ENST00000591043.1:n.228G>T
ENST00000591470.5:c.192G>T	ENSP00000466845.1:p.Glu64Asp
NM_000159.3:c.192G>T	NP_000150.1:p.Glu64Asp
NM_013976.3:c.192G>T	NP_039663.1:p.Glu64Asp
NR_102316.1:n.300G>T
NR_102317.1:n.608G>T
XM_006722721.2:c.192G>T	XP_006722784.1:p.Glu64Asp
XM_011527899.1:c.192G>T	XP_011526201.1:p.Glu64Asp
XM_011527900.1:c.192G>T	XP_011526202.1:p.Glu64Asp
XM_011527899.2:c.192G>T	XP_011526201.1:p.Glu64Asp
XM_011527900.2:c.192G>T	XP_011526202.1:p.Glu64Asp
XM_017026580.1:c.192G>T	XP_016882069.1:p.Glu64Asp
NM_000159.4:c.192G>T MANE Select	NP_000150.1:p.Glu64Asp
NM_013976.4:c.192G>T	NP_039663.1:p.Glu64Asp
NM_013976.5:c.192G>T	NP_039663.1:p.Glu64Asp