Canonical Allele Identifier: CA1158966140

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808185A= , CM000663.2:g.23808185A=	GRCh38
NC_000001.10:g.24134675A= , CM000663.1:g.24134675A=	GRCh37
NC_000001.9:g.24007262A=	NCBI36
NG_013061.1:g.22275T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.700T= MANE Select	ENSP00000363614.3:p.Cys234=
ENST00000235958.4:c.270T=
ENST00000374487.6:c.*741T=	ENSP00000363611.2:n.*741T=
ENST00000374490.7:c.700T=	ENSP00000363614.3:p.Cys234=
ENST00000436439.6:c.487T=	ENSP00000389281.2:p.Cys163=
ENST00000496907.1:n.335T=
ENST00000509389.5:n.391T=
NM_000191.2:c.700T=	NP_000182.2:p.Cys234=
NM_001166059.1:c.487T=	NP_001159531.1:p.Cys163=
NM_000191.3:c.700T= MANE Select	NP_000182.2:p.Cys234=
NM_001166059.2:c.487T=	NP_001159531.1:p.Cys163=