Canonical Allele Identifier: CA505642084

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2022030
• ClinVar RCV Id: RCV002847466
• MyVariant Identifiers: chr19:g.13002706T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891892T>C , CM000681.2:g.12891892T>C	GRCh38
NC_000019.9:g.13002706T>C , CM000681.1:g.13002706T>C	GRCh37
NC_000019.8:g.12863706T>C	NCBI36
NG_009292.1:g.5733T>C
NG_013087.1:g.312A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.189T>C MANE Select	ENSP00000222214.4:p.Asp63=
ENST00000222214.9:c.189T>C	ENSP00000222214.4:p.Asp63=
ENST00000421816.6:n.230T>C
ENST00000585420.5:n.554T>C
ENST00000585760.5:n.225T>C
ENST00000587072.1:c.189T>C	ENSP00000468584.1:p.Asp63=
ENST00000587832.5:n.246T>C
ENST00000588905.5:c.153T>C	ENSP00000465770.1:p.Asp51=
ENST00000589039.5:c.189T>C	ENSP00000465618.1:p.Asp63=
ENST00000590445.5:c.*66T>C	ENSP00000468125.1:n.*66T>C
ENST00000590530.5:c.189T>C	ENSP00000468452.1:p.Asp63=
ENST00000590627.5:n.554T>C
ENST00000591043.1:n.225T>C
ENST00000591470.5:c.189T>C	ENSP00000466845.1:p.Asp63=
NM_000159.3:c.189T>C	NP_000150.1:p.Asp63=
NM_013976.3:c.189T>C	NP_039663.1:p.Asp63=
NR_102316.1:n.297T>C
NR_102317.1:n.605T>C
XM_006722721.2:c.189T>C	XP_006722784.1:p.Asp63=
XM_011527899.1:c.189T>C	XP_011526201.1:p.Asp63=
XM_011527900.1:c.189T>C	XP_011526202.1:p.Asp63=
XM_011527899.2:c.189T>C	XP_011526201.1:p.Asp63=
XM_011527900.2:c.189T>C	XP_011526202.1:p.Asp63=
XM_017026580.1:c.189T>C	XP_016882069.1:p.Asp63=
NM_000159.4:c.189T>C MANE Select	NP_000150.1:p.Asp63=
NM_013976.4:c.189T>C	NP_039663.1:p.Asp63=
NM_013976.5:c.189T>C	NP_039663.1:p.Asp63=