Canonical Allele Identifier: CA2574263765
Gene: HMGCL HGNC NCBI

Linked Data

gnomAD v4: 1-23802443-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23802443G>T , CM000663.2:g.23802443G>T GRCh38
NC_000001.10:g.24128933G>T , CM000663.1:g.24128933G>T GRCh37
NC_000001.9:g.24001520G>T NCBI36
NG_007068.1:g.3362C>A
NG_013061.1:g.28017C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374490.8:c.*20C>A MANE Select ENSP00000363614.3:n.*20C>A
ENST00000235958.4:c.568C>A
ENST00000374487.6:c.*1039C>A ENSP00000363611.2:n.*1039C>A
ENST00000374490.7:c.*20C>A ENSP00000363614.3:n.*20C>A
ENST00000436439.6:c.*20C>A ENSP00000389281.2:n.*20C>A
NM_000191.2:c.*20C>A NP_000182.2:n.*20C>A
NM_001166059.1:c.*20C>A NP_001159531.1:n.*20C>A
NM_000191.3:c.*20C>A MANE Select NP_000182.2:n.*20C>A
NM_001166059.2:c.*20C>A NP_001159531.1:n.*20C>A
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