Canonical Allele Identifier: CA2644083753
Gene: HMGCL HGNC NCBI

Linked Data

gnomAD v4: 1-23802433-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23802433C>T , CM000663.2:g.23802433C>T GRCh38
NC_000001.10:g.24128923C>T , CM000663.1:g.24128923C>T GRCh37
NC_000001.9:g.24001510C>T NCBI36
NG_007068.1:g.3372G>A
NG_013061.1:g.28027G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374490.8:c.*30G>A MANE Select ENSP00000363614.3:n.*30G>A
ENST00000235958.4:c.578G>A
ENST00000374487.6:c.*1049G>A ENSP00000363611.2:n.*1049G>A
ENST00000374490.7:c.*30G>A ENSP00000363614.3:n.*30G>A
ENST00000436439.6:c.*30G>A ENSP00000389281.2:n.*30G>A
NM_000191.2:c.*30G>A NP_000182.2:n.*30G>A
NM_001166059.1:c.*30G>A NP_001159531.1:n.*30G>A
NM_000191.3:c.*30G>A MANE Select NP_000182.2:n.*30G>A
NM_001166059.2:c.*30G>A NP_001159531.1:n.*30G>A
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