Canonical Allele Identifier: CA339023186

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134645T>A (hg19) ; chr1:g.23808155T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808155T>A , CM000663.2:g.23808155T>A	GRCh38
NC_000001.10:g.24134645T>A , CM000663.1:g.24134645T>A	GRCh37
NC_000001.9:g.24007232T>A	NCBI36
NG_013061.1:g.22305A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.730A>T MANE Select	ENSP00000363614.3:p.Asn244Tyr
ENST00000235958.4:c.300A>T
ENST00000374487.6:c.*771A>T	ENSP00000363611.2:n.*771A>T
ENST00000374490.7:c.730A>T	ENSP00000363614.3:p.Asn244Tyr
ENST00000436439.6:c.517A>T	ENSP00000389281.2:p.Asn173Tyr
ENST00000496907.1:n.365A>T
ENST00000509389.5:n.421A>T
NM_000191.2:c.730A>T	NP_000182.2:p.Asn244Tyr
NM_001166059.1:c.517A>T	NP_001159531.1:p.Asn173Tyr
NM_000191.3:c.730A>T MANE Select	NP_000182.2:p.Asn244Tyr
NM_001166059.2:c.517A>T	NP_001159531.1:p.Asn173Tyr