Canonical Allele Identifier: CA339023377

Gene: HMGCL

Linked Data

• dbSNP Id: rs886046312
• gnomAD v2: 1-24134667-G-C
• gnomAD v4: 1-23808177-G-C
• MyVariant Identifiers: chr1:g.24134667G>C (hg19) ; chr1:g.23808177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808177G>C , CM000663.2:g.23808177G>C	GRCh38
NC_000001.10:g.24134667G>C , CM000663.1:g.24134667G>C	GRCh37
NC_000001.9:g.24007254G>C	NCBI36
NG_013061.1:g.22283C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.708C>G MANE Select	ENSP00000363614.3:p.Asp236Glu
ENST00000235958.4:c.278C>G
ENST00000374487.6:c.*749C>G	ENSP00000363611.2:n.*749C>G
ENST00000374490.7:c.708C>G	ENSP00000363614.3:p.Asp236Glu
ENST00000436439.6:c.495C>G	ENSP00000389281.2:p.Asp165Glu
ENST00000496907.1:n.343C>G
ENST00000509389.5:n.399C>G
NM_000191.2:c.708C>G	NP_000182.2:p.Asp236Glu
NM_001166059.1:c.495C>G	NP_001159531.1:p.Asp165Glu
NM_000191.3:c.708C>G MANE Select	NP_000182.2:p.Asp236Glu
NM_001166059.2:c.495C>G	NP_001159531.1:p.Asp165Glu