Canonical Allele Identifier: CA416621124

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134673G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808183G>A , CM000663.2:g.23808183G>A	GRCh38
NC_000001.10:g.24134673G>A , CM000663.1:g.24134673G>A	GRCh37
NC_000001.9:g.24007260G>A	NCBI36
NG_013061.1:g.22277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.702C>T MANE Select	ENSP00000363614.3:p.Cys234=
ENST00000235958.4:c.272C>T
ENST00000374487.6:c.*743C>T	ENSP00000363611.2:n.*743C>T
ENST00000374490.7:c.702C>T	ENSP00000363614.3:p.Cys234=
ENST00000436439.6:c.489C>T	ENSP00000389281.2:p.Cys163=
ENST00000496907.1:n.337C>T
ENST00000509389.5:n.393C>T
NM_000191.2:c.702C>T	NP_000182.2:p.Cys234=
NM_001166059.1:c.489C>T	NP_001159531.1:p.Cys163=
NM_000191.3:c.702C>T MANE Select	NP_000182.2:p.Cys234=
NM_001166059.2:c.489C>T	NP_001159531.1:p.Cys163=