Canonical Allele Identifier: CA1158968131

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817523A= , CM000663.2:g.23817523A=	GRCh38
NC_000001.10:g.24144013A= , CM000663.1:g.24144013A=	GRCh37
NC_000001.9:g.24016600A=	NCBI36
NG_013061.1:g.12937T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.205T= MANE Select	ENSP00000363614.3:p.Ser69=
ENST00000235958.4:c.131+2987T=
ENST00000374487.6:c.*246T=	ENSP00000363611.2:n.*246T=
ENST00000374490.7:c.205T=	ENSP00000363614.3:p.Ser69=
ENST00000436439.6:c.205T=	ENSP00000389281.2:p.Ser69=
ENST00000498698.1:n.11T=
ENST00000509389.5:n.217T=
ENST00000513148.1:n.206T=
NM_000191.2:c.205T=	NP_000182.2:p.Ser69=
NM_001166059.1:c.205T=	NP_001159531.1:p.Ser69=
NM_000191.3:c.205T= MANE Select	NP_000182.2:p.Ser69=
NM_001166059.2:c.205T=	NP_001159531.1:p.Ser69=