Canonical Allele Identifier: CA9234615

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1146890
• ClinVar RCV Id: RCV001486281
• dbSNP Id: rs771924230
• ExAC: 19:13008548 A / C
• gnomAD v2: 19-13008548-A-C
• gnomAD v4: 19-12897734-A-C
• MyVariant Identifiers: chr19:g.13008548A>C (hg19) ; chr19:g.12897734A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897734A>C , CM000681.2:g.12897734A>C	GRCh38
NC_000019.9:g.13008548A>C , CM000681.1:g.13008548A>C	GRCh37
NC_000019.8:g.12869548A>C	NCBI36
NG_009292.1:g.11575A>C
NG_033049.1:g.26539T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.1114A>C MANE Select	ENSP00000222214.4:p.Arg372=
ENST00000222214.9:c.1114A>C	ENSP00000222214.4:p.Arg372=
ENST00000585420.5:n.1444A>C
ENST00000590472.5:c.158A>C
ENST00000590530.5:c.*554A>C	ENSP00000468452.1:n.*554A>C
ENST00000591043.1:n.1424A>C
ENST00000591050.1:c.81A>C
ENST00000591470.5:c.1114A>C	ENSP00000466845.1:p.Arg372=
NM_000159.3:c.1114A>C	NP_000150.1:p.Arg372=
NM_013976.3:c.1114A>C	NP_039663.1:p.Arg372=
NR_102316.1:n.1277A>C
NR_102317.1:n.1495A>C
XM_006722721.2:c.1114A>C	XP_006722784.1:p.Arg372=
XM_011527899.1:c.1114A>C	XP_011526201.1:p.Arg372=
XM_011527900.1:c.1114A>C	XP_011526202.1:p.Arg372=
XM_011527899.2:c.1114A>C	XP_011526201.1:p.Arg372=
XM_011527900.2:c.1114A>C	XP_011526202.1:p.Arg372=
XM_017026580.1:c.1114A>C	XP_016882069.1:p.Arg372=
NM_000159.4:c.1114A>C MANE Select	NP_000150.1:p.Arg372=
NM_013976.4:c.1114A>C	NP_039663.1:p.Arg372=
NM_013976.5:c.1114A>C	NP_039663.1:p.Arg372=