Canonical Allele Identifier: CA416624460

Gene: HMGCL

Linked Data

• ClinVar Variation Id: 1592902
• ClinVar RCV Id: RCV002122359
• dbSNP Id: rs2148424193
• gnomAD v4: 1-23817533-T-C
• MyVariant Identifiers: chr1:g.24144023T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817533T>C , CM000663.2:g.23817533T>C	GRCh38
NC_000001.10:g.24144023T>C , CM000663.1:g.24144023T>C	GRCh37
NC_000001.9:g.24016610T>C	NCBI36
NG_013061.1:g.12927A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.195A>G MANE Select	ENSP00000363614.3:p.Glu65=
ENST00000235958.4:c.131+2977A>G
ENST00000374487.6:c.*236A>G	ENSP00000363611.2:n.*236A>G
ENST00000374490.7:c.195A>G	ENSP00000363614.3:p.Glu65=
ENST00000436439.6:c.195A>G	ENSP00000389281.2:p.Glu65=
ENST00000498698.1:n.1A>G
ENST00000509389.5:n.207A>G
ENST00000513148.1:n.196A>G
NM_000191.2:c.195A>G	NP_000182.2:p.Glu65=
NM_001166059.1:c.195A>G	NP_001159531.1:p.Glu65=
NM_000191.3:c.195A>G MANE Select	NP_000182.2:p.Glu65=
NM_001166059.2:c.195A>G	NP_001159531.1:p.Glu65=