Canonical Allele Identifier: CA1158968206

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817563C= , CM000663.2:g.23817563C=	GRCh38
NC_000001.10:g.24144053C= , CM000663.1:g.24144053C=	GRCh37
NC_000001.9:g.24016640C=	NCBI36
NG_013061.1:g.12897G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.165G= MANE Select	ENSP00000363614.3:p.Val55=
ENST00000235958.4:c.131+2947G=
ENST00000374487.6:c.*206G=	ENSP00000363611.2:n.*206G=
ENST00000374490.7:c.165G=	ENSP00000363614.3:p.Val55=
ENST00000436439.6:c.165G=	ENSP00000389281.2:p.Val55=
ENST00000509389.5:n.177G=
ENST00000513148.1:n.166G=
NM_000191.2:c.165G=	NP_000182.2:p.Val55=
NM_001166059.1:c.165G=	NP_001159531.1:p.Val55=
NM_000191.3:c.165G= MANE Select	NP_000182.2:p.Val55=
NM_001166059.2:c.165G=	NP_001159531.1:p.Val55=