Canonical Allele Identifier: CA404317415
Gene: GCDH HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12893531G>T
GRCh37 chr19:g.13004345G>T
Revel Score:
ENST00000457854 0.955
ENST00000222214 (MANE Select) 0.955
ENST00000421816 0.955
ENST00000422947 0.955
gnomAD v4:
chr19-12893531-G-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar Allele:
1330266
ClinVar RCV:
RCV001823678
ClinVar Variation:
1339224
dbSNP:
755586631
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893531G>T , CM000681.2:g.12893531G>T GRCh38
NC_000019.9:g.13004345G>T , CM000681.1:g.13004345G>T GRCh37
NC_000019.8:g.12865345G>T NCBI36
NG_009292.1:g.7372G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.383G>T MANE Select ENSP00000222214.4:p.Arg128Leu
ENST00000222214.9:c.383G>T ENSP00000222214.4:p.Arg128Leu
ENST00000421816.6:n.361G>T
ENST00000585420.5:n.748G>T
ENST00000587832.5:n.440G>T
ENST00000588905.5:c.347G>T ENSP00000465770.1:p.Arg116Leu
ENST00000589039.5:c.320G>T ENSP00000465618.1:p.Arg107Leu
ENST00000590530.5:c.438G>T ENSP00000468452.1:p.Pro146=
ENST00000590627.5:n.748G>T
ENST00000591043.1:n.419G>T
ENST00000591470.5:c.383G>T ENSP00000466845.1:p.Arg128Leu
NM_000159.3:c.383G>T NP_000150.1:p.Arg128Leu
NM_013976.3:c.383G>T NP_039663.1:p.Arg128Leu
NR_102316.1:n.546G>T
NR_102317.1:n.799G>T
XM_006722721.2:c.383G>T XP_006722784.1:p.Arg128Leu
XM_011527899.1:c.383G>T XP_011526201.1:p.Arg128Leu
XM_011527900.1:c.383G>T XP_011526202.1:p.Arg128Leu
XM_011527899.2:c.383G>T XP_011526201.1:p.Arg128Leu
XM_011527900.2:c.383G>T XP_011526202.1:p.Arg128Leu
XM_017026580.1:c.383G>T XP_016882069.1:p.Arg128Leu
NM_000159.4:c.383G>T MANE Select NP_000150.1:p.Arg128Leu
NM_013976.4:c.383G>T NP_039663.1:p.Arg128Leu
NM_013976.5:c.383G>T NP_039663.1:p.Arg128Leu
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