Canonical Allele Identifier: CA1143524442

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808150G= , CM000663.2:g.23808150G=	GRCh38
NC_000001.10:g.24134640G= , CM000663.1:g.24134640G=	GRCh37
NC_000001.9:g.24007227G=	NCBI36
NG_013061.1:g.22310C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.735C= MANE Select	ENSP00000363614.3:p.Thr245=
ENST00000235958.4:c.305C=
ENST00000374487.6:c.*776C=	ENSP00000363611.2:n.*776C=
ENST00000374490.7:c.735C=	ENSP00000363614.3:p.Thr245=
ENST00000436439.6:c.522C=	ENSP00000389281.2:p.Thr174=
ENST00000496907.1:n.370C=
ENST00000509389.5:n.426C=
NM_000191.2:c.735C=	NP_000182.2:p.Thr245=
NM_001166059.1:c.522C=	NP_001159531.1:p.Thr174=
NM_000191.3:c.735C= MANE Select	NP_000182.2:p.Thr245=
NM_001166059.2:c.522C=	NP_001159531.1:p.Thr174=