Canonical Allele Identifier: CA339023229

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134651G>T (hg19) ; chr1:g.23808161G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808161G>T , CM000663.2:g.23808161G>T	GRCh38
NC_000001.10:g.24134651G>T , CM000663.1:g.24134651G>T	GRCh37
NC_000001.9:g.24007238G>T	NCBI36
NG_013061.1:g.22299C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.724C>A MANE Select	ENSP00000363614.3:p.Leu242Met
ENST00000235958.4:c.294C>A
ENST00000374487.6:c.*765C>A	ENSP00000363611.2:n.*765C>A
ENST00000374490.7:c.724C>A	ENSP00000363614.3:p.Leu242Met
ENST00000436439.6:c.511C>A	ENSP00000389281.2:p.Leu171Met
ENST00000496907.1:n.359C>A
ENST00000509389.5:n.415C>A
NM_000191.2:c.724C>A	NP_000182.2:p.Leu242Met
NM_001166059.1:c.511C>A	NP_001159531.1:p.Leu171Met
NM_000191.3:c.724C>A MANE Select	NP_000182.2:p.Leu242Met
NM_001166059.2:c.511C>A	NP_001159531.1:p.Leu171Met