Canonical Allele Identifier: CA505649871

Gene: GCDH

Linked Data

• ClinVar Variation Id: 2021880
• ClinVar RCV Id: RCV002847353
• MyVariant Identifiers: chr19:g.13008652C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897838C>T , CM000681.2:g.12897838C>T	GRCh38
NC_000019.9:g.13008652C>T , CM000681.1:g.13008652C>T	GRCh37
NC_000019.8:g.12869652C>T	NCBI36
NG_009292.1:g.11679C>T
NG_033049.1:g.26435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1218C>T MANE Select	ENSP00000222214.4:p.Asn406=
ENST00000222214.9:c.1218C>T	ENSP00000222214.4:p.Asn406=
ENST00000585420.5:n.1548C>T
ENST00000590472.5:c.262C>T
ENST00000590530.5:c.*658C>T	ENSP00000468452.1:n.*658C>T
ENST00000591043.1:n.1528C>T
ENST00000591050.1:c.185C>T
ENST00000591470.5:c.1218C>T	ENSP00000466845.1:p.Asn406=
NM_000159.3:c.1218C>T	NP_000150.1:p.Asn406=
NM_013976.3:c.1218C>T	NP_039663.1:p.Asn406=
NR_102316.1:n.1381C>T
NR_102317.1:n.1599C>T
XM_006722721.2:c.1218C>T	XP_006722784.1:p.Asn406=
XM_011527899.1:c.1218C>T	XP_011526201.1:p.Asn406=
XM_011527900.1:c.1218C>T	XP_011526202.1:p.Asn406=
XM_011527899.2:c.1218C>T	XP_011526201.1:p.Asn406=
XM_011527900.2:c.1218C>T	XP_011526202.1:p.Asn406=
XM_017026580.1:c.1218C>T	XP_016882069.1:p.Asn406=
NM_000159.4:c.1218C>T MANE Select	NP_000150.1:p.Asn406=
NM_013976.4:c.1218C>T	NP_039663.1:p.Asn406=
NM_013976.5:c.1218C>T	NP_039663.1:p.Asn406=