Canonical Allele Identifier: CA339024199

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134749C>T (hg19) ; chr1:g.23808259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808259C>T , CM000663.2:g.23808259C>T	GRCh38
NC_000001.10:g.24134749C>T , CM000663.1:g.24134749C>T	GRCh37
NC_000001.9:g.24007336C>T	NCBI36
NG_013061.1:g.22201G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.626G>A MANE Select	ENSP00000363614.3:p.Gly209Asp
ENST00000235958.4:c.196G>A
ENST00000374487.6:c.*667G>A	ENSP00000363611.2:n.*667G>A
ENST00000374490.7:c.626G>A	ENSP00000363614.3:p.Gly209Asp
ENST00000436439.6:c.413G>A	ENSP00000389281.2:p.Gly138Asp
ENST00000496907.1:n.261G>A
ENST00000509389.5:n.361-44G>A
NM_000191.2:c.626G>A	NP_000182.2:p.Gly209Asp
NM_001166059.1:c.413G>A	NP_001159531.1:p.Gly138Asp
NM_000191.3:c.626G>A MANE Select	NP_000182.2:p.Gly209Asp
NM_001166059.2:c.413G>A	NP_001159531.1:p.Gly138Asp