Canonical Allele Identifier: CA404317460

Gene: GCDH

Linked Data

• ClinVar Variation Id: 459951
• ClinVar RCV Id: RCV000531618 ; RCV004526700
• dbSNP Id: rs746388510
• gnomAD v2: 19-13004359-G-A
• gnomAD v4: 19-12893545-G-A
• MyVariant Identifiers: chr19:g.13004359G>A (hg19) ; chr19:g.12893545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893545G>A , CM000681.2:g.12893545G>A	GRCh38
NC_000019.9:g.13004359G>A , CM000681.1:g.13004359G>A	GRCh37
NC_000019.8:g.12865359G>A	NCBI36
NG_009292.1:g.7386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.397G>A MANE Select	ENSP00000222214.4:p.Val133Met
ENST00000222214.9:c.397G>A	ENSP00000222214.4:p.Val133Met
ENST00000421816.6:n.375G>A
ENST00000585420.5:n.762G>A
ENST00000587832.5:n.454G>A
ENST00000588905.5:c.361G>A	ENSP00000465770.1:p.Val121Met
ENST00000589039.5:c.334G>A	ENSP00000465618.1:p.Val112Met
ENST00000590530.5:c.452G>A	ENSP00000468452.1:p.Gly151Asp
ENST00000590627.5:n.762G>A
ENST00000591043.1:n.433G>A
ENST00000591470.5:c.397G>A	ENSP00000466845.1:p.Val133Met
NM_000159.3:c.397G>A	NP_000150.1:p.Val133Met
NM_013976.3:c.397G>A	NP_039663.1:p.Val133Met
NR_102316.1:n.560G>A
NR_102317.1:n.813G>A
XM_006722721.2:c.397G>A	XP_006722784.1:p.Val133Met
XM_011527899.1:c.397G>A	XP_011526201.1:p.Val133Met
XM_011527900.1:c.397G>A	XP_011526202.1:p.Val133Met
XM_011527899.2:c.397G>A	XP_011526201.1:p.Val133Met
XM_011527900.2:c.397G>A	XP_011526202.1:p.Val133Met
XM_017026580.1:c.397G>A	XP_016882069.1:p.Val133Met
NM_000159.4:c.397G>A MANE Select	NP_000150.1:p.Val133Met
NM_013976.4:c.397G>A	NP_039663.1:p.Val133Met
NM_013976.5:c.397G>A	NP_039663.1:p.Val133Met