Canonical Allele Identifier: CA220428
Gene: GCDH HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12897777G>C
GRCh37 chr19:g.13008591G>C
Revel Score:
ENST00000457854 0.964
ENST00000222214 (MANE Select) 0.964
ENST00000422947 0.964
gnomAD v2:
19:13008591 G / C
gnomAD v3:
19:12897777 G / C
gnomAD v4:
chr19-12897777-G-C
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000078248
RCV000812634
ClinVar Variation:
92527
dbSNP:
398123190
JSON-LD

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
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