Canonical Allele Identifier: CA1158966139

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808184C= , CM000663.2:g.23808184C=	GRCh38
NC_000001.10:g.24134674C= , CM000663.1:g.24134674C=	GRCh37
NC_000001.9:g.24007261C=	NCBI36
NG_013061.1:g.22276G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.701G= MANE Select	ENSP00000363614.3:p.Cys234=
ENST00000235958.4:c.271G=
ENST00000374487.6:c.*742G=	ENSP00000363611.2:n.*742G=
ENST00000374490.7:c.701G=	ENSP00000363614.3:p.Cys234=
ENST00000436439.6:c.488G=	ENSP00000389281.2:p.Cys163=
ENST00000496907.1:n.336G=
ENST00000509389.5:n.392G=
NM_000191.2:c.701G=	NP_000182.2:p.Cys234=
NM_001166059.1:c.488G=	NP_001159531.1:p.Cys163=
NM_000191.3:c.701G= MANE Select	NP_000182.2:p.Cys234=
NM_001166059.2:c.488G=	NP_001159531.1:p.Cys163=