Canonical Allele Identifier: CA1158966137

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808179C= , CM000663.2:g.23808179C=	GRCh38
NC_000001.10:g.24134669C= , CM000663.1:g.24134669C=	GRCh37
NC_000001.9:g.24007256C=	NCBI36
NG_013061.1:g.22281G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.706G= MANE Select	ENSP00000363614.3:p.Asp236=
ENST00000235958.4:c.276G=
ENST00000374487.6:c.*747G=	ENSP00000363611.2:n.*747G=
ENST00000374490.7:c.706G=	ENSP00000363614.3:p.Asp236=
ENST00000436439.6:c.493G=	ENSP00000389281.2:p.Asp165=
ENST00000496907.1:n.341G=
ENST00000509389.5:n.397G=
NM_000191.2:c.706G=	NP_000182.2:p.Asp236=
NM_001166059.1:c.493G=	NP_001159531.1:p.Asp165=
NM_000191.3:c.706G= MANE Select	NP_000182.2:p.Asp236=
NM_001166059.2:c.493G=	NP_001159531.1:p.Asp165=