Canonical Allele Identifier: CA505649852

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2171252
• ClinVar RCV Id: RCV003080961
• gnomAD v4: 19-12897832-C-T
• MyVariant Identifiers: chr19:g.13008646C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897832C>T , CM000681.2:g.12897832C>T	GRCh38
NC_000019.9:g.13008646C>T , CM000681.1:g.13008646C>T	GRCh37
NC_000019.8:g.12869646C>T	NCBI36
NG_009292.1:g.11673C>T
NG_033049.1:g.26441G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.1212C>T MANE Select	ENSP00000222214.4:p.Ala404=
ENST00000222214.9:c.1212C>T	ENSP00000222214.4:p.Ala404=
ENST00000585420.5:n.1542C>T
ENST00000590472.5:c.256C>T
ENST00000590530.5:c.*652C>T	ENSP00000468452.1:n.*652C>T
ENST00000591043.1:n.1522C>T
ENST00000591050.1:c.179C>T
ENST00000591470.5:c.1212C>T	ENSP00000466845.1:p.Ala404=
NM_000159.3:c.1212C>T	NP_000150.1:p.Ala404=
NM_013976.3:c.1212C>T	NP_039663.1:p.Ala404=
NR_102316.1:n.1375C>T
NR_102317.1:n.1593C>T
XM_006722721.2:c.1212C>T	XP_006722784.1:p.Ala404=
XM_011527899.1:c.1212C>T	XP_011526201.1:p.Ala404=
XM_011527900.1:c.1212C>T	XP_011526202.1:p.Ala404=
XM_011527899.2:c.1212C>T	XP_011526201.1:p.Ala404=
XM_011527900.2:c.1212C>T	XP_011526202.1:p.Ala404=
XM_017026580.1:c.1212C>T	XP_016882069.1:p.Ala404=
NM_000159.4:c.1212C>T MANE Select	NP_000150.1:p.Ala404=
NM_013976.4:c.1212C>T	NP_039663.1:p.Ala404=
NM_013976.5:c.1212C>T	NP_039663.1:p.Ala404=