Canonical Allele Identifier: CA10581470

Gene: GCDH

Linked Data

• ClinVar Variation Id: 235858
• ClinVar RCV Id: RCV000224360
• dbSNP Id: rs878853154
• MyVariant Identifiers: chr19:g.13004393A>C (hg19) ; chr19:g.12893579A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893579A>C , CM000681.2:g.12893579A>C	GRCh38
NC_000019.9:g.13004393A>C , CM000681.1:g.13004393A>C	GRCh37
NC_000019.8:g.12865393A>C	NCBI36
NG_009292.1:g.7420A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.431A>C MANE Select	ENSP00000222214.4:p.Gln144Pro
ENST00000222214.9:c.431A>C	ENSP00000222214.4:p.Gln144Pro
ENST00000421816.6:n.409A>C
ENST00000585420.5:n.796A>C
ENST00000587832.5:n.488A>C
ENST00000588905.5:c.395A>C	ENSP00000465770.1:p.Gln132Pro
ENST00000589039.5:c.368A>C	ENSP00000465618.1:p.Gln123Pro
ENST00000590530.5:c.486A>C	ENSP00000468452.1:p.Pro162=
ENST00000590627.5:n.796A>C
ENST00000591043.1:n.467A>C
ENST00000591470.5:c.431A>C	ENSP00000466845.1:p.Gln144Pro
NM_000159.3:c.431A>C	NP_000150.1:p.Gln144Pro
NM_013976.3:c.431A>C	NP_039663.1:p.Gln144Pro
NR_102316.1:n.594A>C
NR_102317.1:n.847A>C
XM_006722721.2:c.431A>C	XP_006722784.1:p.Gln144Pro
XM_011527899.1:c.431A>C	XP_011526201.1:p.Gln144Pro
XM_011527900.1:c.431A>C	XP_011526202.1:p.Gln144Pro
XM_011527899.2:c.431A>C	XP_011526201.1:p.Gln144Pro
XM_011527900.2:c.431A>C	XP_011526202.1:p.Gln144Pro
XM_017026580.1:c.431A>C	XP_016882069.1:p.Gln144Pro
NM_000159.4:c.431A>C MANE Select	NP_000150.1:p.Gln144Pro
NM_013976.4:c.431A>C	NP_039663.1:p.Gln144Pro
NM_013976.5:c.431A>C	NP_039663.1:p.Gln144Pro