Canonical Allele Identifier: CA416621040

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134658A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808168A>T , CM000663.2:g.23808168A>T	GRCh38
NC_000001.10:g.24134658A>T , CM000663.1:g.24134658A>T	GRCh37
NC_000001.9:g.24007245A>T	NCBI36
NG_013061.1:g.22292T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.717T>A MANE Select	ENSP00000363614.3:p.Gly239=
ENST00000235958.4:c.287T>A
ENST00000374487.6:c.*758T>A	ENSP00000363611.2:n.*758T>A
ENST00000374490.7:c.717T>A	ENSP00000363614.3:p.Gly239=
ENST00000436439.6:c.504T>A	ENSP00000389281.2:p.Gly168=
ENST00000496907.1:n.352T>A
ENST00000509389.5:n.408T>A
NM_000191.2:c.717T>A	NP_000182.2:p.Gly239=
NM_001166059.1:c.504T>A	NP_001159531.1:p.Gly168=
NM_000191.3:c.717T>A MANE Select	NP_000182.2:p.Gly239=
NM_001166059.2:c.504T>A	NP_001159531.1:p.Gly168=