Canonical Allele Identifier: CA404318183

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1414622
• ClinVar RCV Id: RCV001945339 ; RCV003154220
• dbSNP Id: rs2145950460
• gnomAD v4: 19-12896069-G-A
• MyVariant Identifiers: chr19:g.13006883G>A (hg19) ; chr19:g.12896069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896069G>A , CM000681.2:g.12896069G>A	GRCh38
NC_000019.9:g.13006883G>A , CM000681.1:g.13006883G>A	GRCh37
NC_000019.8:g.12867883G>A	NCBI36
NG_009292.1:g.9910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.583G>A MANE Select	ENSP00000222214.4:p.Ala195Thr
ENST00000222214.9:c.583G>A	ENSP00000222214.4:p.Ala195Thr
ENST00000421816.6:n.561G>A
ENST00000585420.5:n.948G>A
ENST00000590530.5:c.*23G>A	ENSP00000468452.1:n.*23G>A
ENST00000591043.1:n.619G>A
ENST00000591470.5:c.583G>A	ENSP00000466845.1:p.Ala195Thr
NM_000159.3:c.583G>A	NP_000150.1:p.Ala195Thr
NM_013976.3:c.583G>A	NP_039663.1:p.Ala195Thr
NR_102316.1:n.746G>A
NR_102317.1:n.999G>A
XM_006722721.2:c.583G>A	XP_006722784.1:p.Ala195Thr
XM_011527899.1:c.583G>A	XP_011526201.1:p.Ala195Thr
XM_011527900.1:c.583G>A	XP_011526202.1:p.Ala195Thr
XM_011527899.2:c.583G>A	XP_011526201.1:p.Ala195Thr
XM_011527900.2:c.583G>A	XP_011526202.1:p.Ala195Thr
XM_017026580.1:c.583G>A	XP_016882069.1:p.Ala195Thr
NM_000159.4:c.583G>A MANE Select	NP_000150.1:p.Ala195Thr
NM_013976.4:c.583G>A	NP_039663.1:p.Ala195Thr
NM_013976.5:c.583G>A	NP_039663.1:p.Ala195Thr