Canonical Allele Identifier: CA1158966087
Gene: HMGCL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23808076A= , CM000663.2:g.23808076A= GRCh38
NC_000001.10:g.24134566A= , CM000663.1:g.24134566A= GRCh37
NC_000001.9:g.24007153A= NCBI36
NG_013061.1:g.22384T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.750+59T= MANE Select ENSP00000363614.3:n.750+59T=
ENST00000235958.4:c.320+59T=
ENST00000374487.6:c.*791+59T= ENSP00000363611.2:n.*791+59T=
ENST00000374490.7:c.750+59T= ENSP00000363614.3:n.750+59T=
ENST00000436439.6:c.537+59T= ENSP00000389281.2:n.537+59T=
ENST00000496907.1:n.385+59T=
ENST00000509389.5:n.441+59T=
NM_000191.2:c.750+59T= NP_000182.2:n.750+59T=
NM_001166059.1:c.537+59T= NP_001159531.1:n.537+59T=
NM_000191.3:c.750+59T= MANE Select NP_000182.2:n.750+59T=
NM_001166059.2:c.537+59T= NP_001159531.1:n.537+59T=
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