Canonical Allele Identifier: CA2644083763
Gene: HMGCL HGNC NCBI

Linked Data

gnomAD v4: 1-23802440-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23802440A>T , CM000663.2:g.23802440A>T GRCh38
NC_000001.10:g.24128930A>T , CM000663.1:g.24128930A>T GRCh37
NC_000001.9:g.24001517A>T NCBI36
NG_007068.1:g.3365T>A
NG_013061.1:g.28020T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374490.8:c.*23T>A MANE Select ENSP00000363614.3:n.*23T>A
ENST00000235958.4:c.571T>A
ENST00000374487.6:c.*1042T>A ENSP00000363611.2:n.*1042T>A
ENST00000374490.7:c.*23T>A ENSP00000363614.3:n.*23T>A
ENST00000436439.6:c.*23T>A ENSP00000389281.2:n.*23T>A
NM_000191.2:c.*23T>A NP_000182.2:n.*23T>A
NM_001166059.1:c.*23T>A NP_001159531.1:n.*23T>A
NM_000191.3:c.*23T>A MANE Select NP_000182.2:n.*23T>A
NM_001166059.2:c.*23T>A NP_001159531.1:n.*23T>A
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