Canonical Allele Identifier: CA220428

Gene: GCDH

Linked Data

• ClinVar Variation Id: 92527
• ClinVar RCV Id: RCV000078248 ; RCV000812634
• dbSNP Id: rs398123190
• ExAC: 19:13008591 G / C
• gnomAD v2: 19-13008591-G-C
• gnomAD v3: 19-12897777-G-C
• gnomAD v4: 19-12897777-G-C
• MyVariant Identifiers: chr19:g.13008591G>C (hg19) ; chr19:g.12897777G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897777G>C , CM000681.2:g.12897777G>C	GRCh38
NC_000019.9:g.13008591G>C , CM000681.1:g.13008591G>C	GRCh37
NC_000019.8:g.12869591G>C	NCBI36
NG_009292.1:g.11618G>C
NG_033049.1:g.26496C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1157G>C MANE Select	ENSP00000222214.4:p.Arg386Pro
ENST00000222214.9:c.1157G>C	ENSP00000222214.4:p.Arg386Pro
ENST00000585420.5:n.1487G>C
ENST00000590472.5:c.201G>C
ENST00000590530.5:c.*597G>C	ENSP00000468452.1:n.*597G>C
ENST00000591043.1:n.1467G>C
ENST00000591050.1:c.124G>C
ENST00000591470.5:c.1157G>C	ENSP00000466845.1:p.Arg386Pro
NM_000159.3:c.1157G>C	NP_000150.1:p.Arg386Pro
NM_013976.3:c.1157G>C	NP_039663.1:p.Arg386Pro
NR_102316.1:n.1320G>C
NR_102317.1:n.1538G>C
XM_006722721.2:c.1157G>C	XP_006722784.1:p.Arg386Pro
XM_011527899.1:c.1157G>C	XP_011526201.1:p.Arg386Pro
XM_011527900.1:c.1157G>C	XP_011526202.1:p.Arg386Pro
XM_011527899.2:c.1157G>C	XP_011526201.1:p.Arg386Pro
XM_011527900.2:c.1157G>C	XP_011526202.1:p.Arg386Pro
XM_017026580.1:c.1157G>C	XP_016882069.1:p.Arg386Pro
NM_000159.4:c.1157G>C MANE Select	NP_000150.1:p.Arg386Pro
NM_013976.4:c.1157G>C	NP_039663.1:p.Arg386Pro
NM_013976.5:c.1157G>C	NP_039663.1:p.Arg386Pro