Canonical Allele Identifier: CA1141952832

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808149A= , CM000663.2:g.23808149A=	GRCh38
NC_000001.10:g.24134639A= , CM000663.1:g.24134639A=	GRCh37
NC_000001.9:g.24007226A=	NCBI36
NG_013061.1:g.22311T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.736T= MANE Select	ENSP00000363614.3:p.Leu246=
ENST00000235958.4:c.306T=
ENST00000374487.6:c.*777T=	ENSP00000363611.2:n.*777T=
ENST00000374490.7:c.736T=	ENSP00000363614.3:p.Leu246=
ENST00000436439.6:c.523T=	ENSP00000389281.2:p.Leu175=
ENST00000496907.1:n.371T=
ENST00000509389.5:n.427T=
NM_000191.2:c.736T=	NP_000182.2:p.Leu246=
NM_001166059.1:c.523T=	NP_001159531.1:p.Leu175=
NM_000191.3:c.736T= MANE Select	NP_000182.2:p.Leu246=
NM_001166059.2:c.523T=	NP_001159531.1:p.Leu175=