Canonical Allele Identifier: CA1141580660

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817520C= , CM000663.2:g.23817520C=	GRCh38
NC_000001.10:g.24144010C= , CM000663.1:g.24144010C=	GRCh37
NC_000001.9:g.24016597C=	NCBI36
NG_013061.1:g.12940G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.208G= MANE Select	ENSP00000363614.3:p.Val70=
ENST00000235958.4:c.131+2990G=
ENST00000374487.6:c.*249G=	ENSP00000363611.2:n.*249G=
ENST00000374490.7:c.208G=	ENSP00000363614.3:p.Val70=
ENST00000436439.6:c.208G=	ENSP00000389281.2:p.Val70=
ENST00000498698.1:n.14G=
ENST00000509389.5:n.220G=
ENST00000513148.1:n.209G=
NM_000191.2:c.208G=	NP_000182.2:p.Val70=
NM_001166059.1:c.208G=	NP_001159531.1:p.Val70=
NM_000191.3:c.208G= MANE Select	NP_000182.2:p.Val70=
NM_001166059.2:c.208G=	NP_001159531.1:p.Val70=