Canonical Allele Identifier: CA220476

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23820532C>T , CM000663.2:g.23820532C>T	GRCh38
NC_000001.10:g.24147022C>T , CM000663.1:g.24147022C>T	GRCh37
NC_000001.9:g.24019609C>T	NCBI36
NG_013061.1:g.9928G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000191.3:c.122G>A MANE Select	NP_000182.2:p.Arg41Gln
ENST00000374490.8:c.122G>A MANE Select	ENSP00000363614.3:p.Arg41Gln
NM_000191.2:c.122G>A	NP_000182.2:p.Arg41Gln
NM_001166059.1:c.122G>A	NP_001159531.1:p.Arg41Gln
NM_001166059.2:c.122G>A	NP_001159531.1:p.Arg41Gln
ENST00000235958.4:c.109G>A
ENST00000374487.6:c.*163G>A	ENSP00000363611.2:n.*163G>A
ENST00000374490.7:c.122G>A	ENSP00000363614.3:p.Arg41Gln
ENST00000436439.6:c.122G>A	ENSP00000389281.2:p.Arg41Gln
ENST00000509389.5:n.134G>A
ENST00000513148.1:n.123G>A