Canonical Allele Identifier: CA339023223

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134650A>T (hg19) ; chr1:g.23808160A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808160A>T , CM000663.2:g.23808160A>T	GRCh38
NC_000001.10:g.24134650A>T , CM000663.1:g.24134650A>T	GRCh37
NC_000001.9:g.24007237A>T	NCBI36
NG_013061.1:g.22300T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.725T>A MANE Select	ENSP00000363614.3:p.Leu242Gln
ENST00000235958.4:c.295T>A
ENST00000374487.6:c.*766T>A	ENSP00000363611.2:n.*766T>A
ENST00000374490.7:c.725T>A	ENSP00000363614.3:p.Leu242Gln
ENST00000436439.6:c.512T>A	ENSP00000389281.2:p.Leu171Gln
ENST00000496907.1:n.360T>A
ENST00000509389.5:n.416T>A
NM_000191.2:c.725T>A	NP_000182.2:p.Leu242Gln
NM_001166059.1:c.512T>A	NP_001159531.1:p.Leu171Gln
NM_000191.3:c.725T>A MANE Select	NP_000182.2:p.Leu242Gln
NM_001166059.2:c.512T>A	NP_001159531.1:p.Leu171Gln