Canonical Allele Identifier: CA505644771

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1078475
• ClinVar RCV Id: RCV001393414
• dbSNP Id: rs1475804794
• MyVariant Identifiers: chr19:g.13004457G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893643G>T , CM000681.2:g.12893643G>T	GRCh38
NC_000019.9:g.13004457G>T , CM000681.1:g.13004457G>T	GRCh37
NC_000019.8:g.12865457G>T	NCBI36
NG_009292.1:g.7484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.495G>T MANE Select	ENSP00000222214.4:p.Leu165=
ENST00000222214.9:c.495G>T	ENSP00000222214.4:p.Leu165=
ENST00000421816.6:n.473G>T
ENST00000585420.5:n.860G>T
ENST00000587832.5:n.552G>T
ENST00000588905.5:c.459G>T	ENSP00000465770.1:p.Leu153=
ENST00000589039.5:c.432G>T	ENSP00000465618.1:p.Leu144=
ENST00000590530.5:c.550G>T	ENSP00000468452.1:p.Ala184Ser
ENST00000590627.5:n.860G>T
ENST00000591043.1:n.531G>T
ENST00000591470.5:c.495G>T	ENSP00000466845.1:p.Leu165=
NM_000159.3:c.495G>T	NP_000150.1:p.Leu165=
NM_013976.3:c.495G>T	NP_039663.1:p.Leu165=
NR_102316.1:n.658G>T
NR_102317.1:n.911G>T
XM_006722721.2:c.495G>T	XP_006722784.1:p.Leu165=
XM_011527899.1:c.495G>T	XP_011526201.1:p.Leu165=
XM_011527900.1:c.495G>T	XP_011526202.1:p.Leu165=
XM_011527899.2:c.495G>T	XP_011526201.1:p.Leu165=
XM_011527900.2:c.495G>T	XP_011526202.1:p.Leu165=
XM_017026580.1:c.495G>T	XP_016882069.1:p.Leu165=
NM_000159.4:c.495G>T MANE Select	NP_000150.1:p.Leu165=
NM_013976.4:c.495G>T	NP_039663.1:p.Leu165=
NM_013976.5:c.495G>T	NP_039663.1:p.Leu165=