Canonical Allele Identifier: CA999572511
Gene: HMGCL HGNC NCBI

Linked Data

gnomAD v3: 1-23802449-G-C
gnomAD v4: 1-23802449-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23802449G>C , CM000663.2:g.23802449G>C GRCh38
NC_000001.10:g.24128939G>C , CM000663.1:g.24128939G>C GRCh37
NC_000001.9:g.24001526G>C NCBI36
NG_007068.1:g.3356C>G
NG_013061.1:g.28011C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374490.8:c.*14C>G MANE Select ENSP00000363614.3:n.*14C>G
ENST00000235958.4:c.562C>G
ENST00000374487.6:c.*1033C>G ENSP00000363611.2:n.*1033C>G
ENST00000374490.7:c.*14C>G ENSP00000363614.3:n.*14C>G
ENST00000436439.6:c.*14C>G ENSP00000389281.2:n.*14C>G
NM_000191.2:c.*14C>G NP_000182.2:n.*14C>G
NM_001166059.1:c.*14C>G NP_001159531.1:n.*14C>G
NM_000191.3:c.*14C>G MANE Select NP_000182.2:n.*14C>G
NM_001166059.2:c.*14C>G NP_001159531.1:n.*14C>G
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