Canonical Allele Identifier: CA220434

Gene: GCDH

Linked Data

• ClinVar Variation Id: 92531
• ClinVar RCV Id: RCV000078252 ; RCV000546348
• dbSNP Id: rs141456457
• ExAC: 19:13004390 T / C
• gnomAD v2: 19-13004390-T-C
• gnomAD v3: 19-12893576-T-C
• gnomAD v4: 19-12893576-T-C
• MyVariant Identifiers: chr19:g.13004390T>C (hg19) ; chr19:g.12893576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893576T>C , CM000681.2:g.12893576T>C	GRCh38
NC_000019.9:g.13004390T>C , CM000681.1:g.13004390T>C	GRCh37
NC_000019.8:g.12865390T>C	NCBI36
NG_009292.1:g.7417T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.428T>C MANE Select	ENSP00000222214.4:p.Val143Ala
ENST00000222214.9:c.428T>C	ENSP00000222214.4:p.Val143Ala
ENST00000421816.6:n.406T>C
ENST00000585420.5:n.793T>C
ENST00000587832.5:n.485T>C
ENST00000588905.5:c.392T>C	ENSP00000465770.1:p.Val131Ala
ENST00000589039.5:c.365T>C	ENSP00000465618.1:p.Val122Ala
ENST00000590530.5:c.483T>C	ENSP00000468452.1:p.Cys161=
ENST00000590627.5:n.793T>C
ENST00000591043.1:n.464T>C
ENST00000591470.5:c.428T>C	ENSP00000466845.1:p.Val143Ala
NM_000159.3:c.428T>C	NP_000150.1:p.Val143Ala
NM_013976.3:c.428T>C	NP_039663.1:p.Val143Ala
NR_102316.1:n.591T>C
NR_102317.1:n.844T>C
XM_006722721.2:c.428T>C	XP_006722784.1:p.Val143Ala
XM_011527899.1:c.428T>C	XP_011526201.1:p.Val143Ala
XM_011527900.1:c.428T>C	XP_011526202.1:p.Val143Ala
XM_011527899.2:c.428T>C	XP_011526201.1:p.Val143Ala
XM_011527900.2:c.428T>C	XP_011526202.1:p.Val143Ala
XM_017026580.1:c.428T>C	XP_016882069.1:p.Val143Ala
NM_000159.4:c.428T>C MANE Select	NP_000150.1:p.Val143Ala
NM_013976.4:c.428T>C	NP_039663.1:p.Val143Ala
NM_013976.5:c.428T>C	NP_039663.1:p.Val143Ala