Canonical Allele Identifier: CA339023279

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23808170-C-T
• MyVariant Identifiers: chr1:g.24134660C>T (hg19) ; chr1:g.23808170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808170C>T , CM000663.2:g.23808170C>T	GRCh38
NC_000001.10:g.24134660C>T , CM000663.1:g.24134660C>T	GRCh37
NC_000001.9:g.24007247C>T	NCBI36
NG_013061.1:g.22290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.715G>A MANE Select	ENSP00000363614.3:p.Gly239Ser
ENST00000235958.4:c.285G>A
ENST00000374487.6:c.*756G>A	ENSP00000363611.2:n.*756G>A
ENST00000374490.7:c.715G>A	ENSP00000363614.3:p.Gly239Ser
ENST00000436439.6:c.502G>A	ENSP00000389281.2:p.Gly168Ser
ENST00000496907.1:n.350G>A
ENST00000509389.5:n.406G>A
NM_000191.2:c.715G>A	NP_000182.2:p.Gly239Ser
NM_001166059.1:c.502G>A	NP_001159531.1:p.Gly168Ser
NM_000191.3:c.715G>A MANE Select	NP_000182.2:p.Gly239Ser
NM_001166059.2:c.502G>A	NP_001159531.1:p.Gly168Ser