Canonical Allele Identifier: CA2644080421
Gene: HMGCL HGNC NCBI

Linked Data

gnomAD v4: 1-23817338-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23817338C>T , CM000663.2:g.23817338C>T GRCh38
NC_000001.10:g.24143828C>T , CM000663.1:g.24143828C>T GRCh37
NC_000001.9:g.24016415C>T NCBI36
NG_013061.1:g.13122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.252+138G>A MANE Select ENSP00000363614.3:n.252+138G>A
ENST00000235958.4:c.131+3172G>A
ENST00000374487.6:c.*293+138G>A ENSP00000363611.2:n.*293+138G>A
ENST00000374490.7:c.252+138G>A ENSP00000363614.3:n.252+138G>A
ENST00000436439.6:c.252+138G>A ENSP00000389281.2:n.252+138G>A
ENST00000498698.1:n.58+138G>A
ENST00000509389.5:n.264+138G>A
ENST00000513148.1:n.253+138G>A
NM_000191.2:c.252+138G>A NP_000182.2:n.252+138G>A
NM_001166059.1:c.252+138G>A NP_001159531.1:n.252+138G>A
NM_000191.3:c.252+138G>A MANE Select NP_000182.2:n.252+138G>A
NM_001166059.2:c.252+138G>A NP_001159531.1:n.252+138G>A
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