Canonical Allele Identifier: CA2644083766
Gene: HMGCL HGNC NCBI

Linked Data

gnomAD v4: 1-23802442-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23802442G>T , CM000663.2:g.23802442G>T GRCh38
NC_000001.10:g.24128932G>T , CM000663.1:g.24128932G>T GRCh37
NC_000001.9:g.24001519G>T NCBI36
NG_007068.1:g.3363C>A
NG_013061.1:g.28018C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374490.8:c.*21C>A MANE Select ENSP00000363614.3:n.*21C>A
ENST00000235958.4:c.569C>A
ENST00000374487.6:c.*1040C>A ENSP00000363611.2:n.*1040C>A
ENST00000374490.7:c.*21C>A ENSP00000363614.3:n.*21C>A
ENST00000436439.6:c.*21C>A ENSP00000389281.2:n.*21C>A
NM_000191.2:c.*21C>A NP_000182.2:n.*21C>A
NM_001166059.1:c.*21C>A NP_001159531.1:n.*21C>A
NM_000191.3:c.*21C>A MANE Select NP_000182.2:n.*21C>A
NM_001166059.2:c.*21C>A NP_001159531.1:n.*21C>A
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