Canonical Allele Identifier: CA404318675

Gene: GCDH

Linked Data

• ClinVar Variation Id: 625293
• ClinVar RCV Id: RCV000767352
• dbSNP Id: rs1203022386
• MyVariant Identifiers: chr19:g.13007084G>C (hg19) ; chr19:g.12896270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896270G>C , CM000681.2:g.12896270G>C	GRCh38
NC_000019.9:g.13007084G>C , CM000681.1:g.13007084G>C	GRCh37
NC_000019.8:g.12868084G>C	NCBI36
NG_009292.1:g.10111G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.701G>C MANE Select	ENSP00000222214.4:p.Arg234Pro
ENST00000222214.9:c.701G>C	ENSP00000222214.4:p.Arg234Pro
ENST00000421816.6:n.679G>C
ENST00000585420.5:n.1031G>C
ENST00000590530.5:c.*141G>C	ENSP00000468452.1:n.*141G>C
ENST00000591043.1:n.737G>C
ENST00000591470.5:c.701G>C	ENSP00000466845.1:p.Arg234Pro
NM_000159.3:c.701G>C	NP_000150.1:p.Arg234Pro
NM_013976.3:c.701G>C	NP_039663.1:p.Arg234Pro
NR_102316.1:n.864G>C
NR_102317.1:n.1082G>C
XM_006722721.2:c.701G>C	XP_006722784.1:p.Arg234Pro
XM_011527899.1:c.701G>C	XP_011526201.1:p.Arg234Pro
XM_011527900.1:c.701G>C	XP_011526202.1:p.Arg234Pro
XM_011527899.2:c.701G>C	XP_011526201.1:p.Arg234Pro
XM_011527900.2:c.701G>C	XP_011526202.1:p.Arg234Pro
XM_017026580.1:c.701G>C	XP_016882069.1:p.Arg234Pro
NM_000159.4:c.701G>C MANE Select	NP_000150.1:p.Arg234Pro
NM_013976.4:c.701G>C	NP_039663.1:p.Arg234Pro
NM_013976.5:c.701G>C	NP_039663.1:p.Arg234Pro