Canonical Allele Identifier: CA234085

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2083
• ClinVar RCV Id: RCV000002164 ; RCV000790796
• dbSNP Id: rs121434371
• ExAC: 19:13007748 G / A
• gnomAD v2: 19-13007748-G-A
• gnomAD v3: 19-12896934-G-A
• gnomAD v4: 19-12896934-G-A
• MyVariant Identifiers: chr19:g.13007748G>A (hg19) ; chr19:g.12896934G>A (hg38)
• PubMed: PMID:8900227 ; PMID:15505393 ; PMID:20732827 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896934G>A , CM000681.2:g.12896934G>A	GRCh38
NC_000019.9:g.13007748G>A , CM000681.1:g.13007748G>A	GRCh37
NC_000019.8:g.12868748G>A	NCBI36
NG_009292.1:g.10775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.877G>A MANE Select	ENSP00000222214.4:p.Ala293Thr
ENST00000222214.9:c.877G>A	ENSP00000222214.4:p.Ala293Thr
ENST00000421816.6:n.855G>A
ENST00000585420.5:n.1207G>A
ENST00000590530.5:c.*317G>A	ENSP00000468452.1:n.*317G>A
ENST00000591043.1:n.913G>A
ENST00000591470.5:c.877G>A	ENSP00000466845.1:p.Ala293Thr
NM_000159.3:c.877G>A	NP_000150.1:p.Ala293Thr
NM_013976.3:c.877G>A	NP_039663.1:p.Ala293Thr
NR_102316.1:n.1040G>A
NR_102317.1:n.1258G>A
XM_006722721.2:c.877G>A	XP_006722784.1:p.Ala293Thr
XM_011527899.1:c.877G>A	XP_011526201.1:p.Ala293Thr
XM_011527900.1:c.877G>A	XP_011526202.1:p.Ala293Thr
XM_011527899.2:c.877G>A	XP_011526201.1:p.Ala293Thr
XM_011527900.2:c.877G>A	XP_011526202.1:p.Ala293Thr
XM_017026580.1:c.877G>A	XP_016882069.1:p.Ala293Thr
NM_000159.4:c.877G>A MANE Select	NP_000150.1:p.Ala293Thr
NM_013976.4:c.877G>A	NP_039663.1:p.Ala293Thr
NM_013976.5:c.877G>A	NP_039663.1:p.Ala293Thr