Canonical Allele Identifier: CA305500641

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1951342
• ClinVar RCV Id: RCV002686083
• dbSNP Id: rs987744073
• gnomAD v3: 19-12896011-C-G
• gnomAD v4: 19-12896011-C-G
• MyVariant Identifiers: chr19:g.13006825C>G (hg19) ; chr19:g.12896011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896011C>G , CM000681.2:g.12896011C>G	GRCh38
NC_000019.9:g.13006825C>G , CM000681.1:g.13006825C>G	GRCh37
NC_000019.8:g.12867825C>G	NCBI36
NG_009292.1:g.9852C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.525C>G MANE Select	ENSP00000222214.4:p.Gly175=
ENST00000222214.9:c.525C>G	ENSP00000222214.4:p.Gly175=
ENST00000421816.6:n.503C>G
ENST00000585420.5:n.890C>G
ENST00000588905.5:c.489C>G	ENSP00000465770.1:p.Gly163=
ENST00000590530.5:c.580C>G	ENSP00000468452.1:p.Leu194Val
ENST00000591043.1:n.561C>G
ENST00000591470.5:c.525C>G	ENSP00000466845.1:p.Gly175=
NM_000159.3:c.525C>G	NP_000150.1:p.Gly175=
NM_013976.3:c.525C>G	NP_039663.1:p.Gly175=
NR_102316.1:n.688C>G
NR_102317.1:n.941C>G
XM_006722721.2:c.525C>G	XP_006722784.1:p.Gly175=
XM_011527899.1:c.525C>G	XP_011526201.1:p.Gly175=
XM_011527900.1:c.525C>G	XP_011526202.1:p.Gly175=
XM_011527899.2:c.525C>G	XP_011526201.1:p.Gly175=
XM_011527900.2:c.525C>G	XP_011526202.1:p.Gly175=
XM_017026580.1:c.525C>G	XP_016882069.1:p.Gly175=
NM_000159.4:c.525C>G MANE Select	NP_000150.1:p.Gly175=
NM_013976.4:c.525C>G	NP_039663.1:p.Gly175=
NM_013976.5:c.525C>G	NP_039663.1:p.Gly175=