Canonical Allele Identifier: CA339029361

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24144052T>C (hg19) ; chr1:g.23817562T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817562T>C , CM000663.2:g.23817562T>C	GRCh38
NC_000001.10:g.24144052T>C , CM000663.1:g.24144052T>C	GRCh37
NC_000001.9:g.24016639T>C	NCBI36
NG_013061.1:g.12898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.166A>G MANE Select	ENSP00000363614.3:p.Lys56Glu
ENST00000235958.4:c.131+2948A>G
ENST00000374487.6:c.*207A>G	ENSP00000363611.2:n.*207A>G
ENST00000374490.7:c.166A>G	ENSP00000363614.3:p.Lys56Glu
ENST00000436439.6:c.166A>G	ENSP00000389281.2:p.Lys56Glu
ENST00000509389.5:n.178A>G
ENST00000513148.1:n.167A>G
NM_000191.2:c.166A>G	NP_000182.2:p.Lys56Glu
NM_001166059.1:c.166A>G	NP_001159531.1:p.Lys56Glu
NM_000191.3:c.166A>G MANE Select	NP_000182.2:p.Lys56Glu
NM_001166059.2:c.166A>G	NP_001159531.1:p.Lys56Glu