Canonical Allele Identifier: CA305500781

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2911388
• ClinVar RCV Id: RCV003603867
• dbSNP Id: rs1022166942
• gnomAD v4: 19-12897883-G-A
• MyVariant Identifiers: chr19:g.13008697G>A (hg19) ; chr19:g.12897883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897883G>A , CM000681.2:g.12897883G>A	GRCh38
NC_000019.9:g.13008697G>A , CM000681.1:g.13008697G>A	GRCh37
NC_000019.8:g.12869697G>A	NCBI36
NG_009292.1:g.11724G>A
NG_033049.1:g.26390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1243+20G>A MANE Select	ENSP00000222214.4:n.1243+20G>A
ENST00000222214.9:c.1243+20G>A	ENSP00000222214.4:n.1243+20G>A
ENST00000585420.5:n.1573+20G>A
ENST00000590472.5:c.287+20G>A
ENST00000590530.5:c.*683+20G>A	ENSP00000468452.1:n.*683+20G>A
ENST00000591043.1:n.1553+20G>A
ENST00000591050.1:c.210+20G>A
ENST00000591470.5:c.1243+20G>A	ENSP00000466845.1:n.1243+20G>A
NM_000159.3:c.1243+20G>A	NP_000150.1:n.1243+20G>A
NM_013976.3:c.1243+20G>A	NP_039663.1:n.1243+20G>A
NR_102316.1:n.1406+20G>A
NR_102317.1:n.1624+20G>A
XM_006722721.2:c.1243+20G>A	XP_006722784.1:n.1243+20G>A
XM_011527899.1:c.1243+20G>A	XP_011526201.1:n.1243+20G>A
XM_011527900.1:c.1243+20G>A	XP_011526202.1:n.1243+20G>A
XM_011527899.2:c.1243+20G>A	XP_011526201.1:n.1243+20G>A
XM_011527900.2:c.1243+20G>A	XP_011526202.1:n.1243+20G>A
XM_017026580.1:c.1243+20G>A	XP_016882069.1:n.1243+20G>A
NM_000159.4:c.1243+20G>A MANE Select	NP_000150.1:n.1243+20G>A
NM_013976.4:c.1243+20G>A	NP_039663.1:n.1243+20G>A
NM_013976.5:c.1243+20G>A	NP_039663.1:n.1243+20G>A