Canonical Allele Identifier: CA256131
Gene: HMGCL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23804441C>T
GRCh37 chr1:g.24130931C>T
Revel Score:
ENST00000374490 (MANE Select) 0.981
ENST00000436439 0.981
ENST00000374483 0.981
ENST00000543166 0.981
gnomAD v4:
chr1-23804441-C-T
Joint Max Group AF 0.00000738 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar RCV:
RCV000012736
ClinVar Variation:
11958
dbSNP:
121964998
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23804441C>T , CM000663.2:g.23804441C>T GRCh38
NC_000001.10:g.24130931C>T , CM000663.1:g.24130931C>T GRCh37
NC_000001.9:g.24003518C>T NCBI36
NG_007068.1:g.1364G>A
NG_013061.1:g.26019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.835G>A MANE Select ENSP00000363614.3:p.Glu279Lys
ENST00000235958.4:c.405G>A
ENST00000374487.6:c.*876G>A ENSP00000363611.2:n.*876G>A
ENST00000374490.7:c.835G>A ENSP00000363614.3:p.Glu279Lys
ENST00000436439.6:c.622G>A ENSP00000389281.2:p.Glu208Lys
ENST00000509389.5:n.526G>A
NM_000191.2:c.835G>A NP_000182.2:p.Glu279Lys
NM_001166059.1:c.622G>A NP_001159531.1:p.Glu208Lys
NM_000191.3:c.835G>A MANE Select NP_000182.2:p.Glu279Lys
NM_001166059.2:c.622G>A NP_001159531.1:p.Glu208Lys
Search 100 bp 5'
Search 100 bp 3'