Canonical Allele Identifier: CA686166
Gene: HMGCL HGNC NCBI

Linked Data

ClinVar Variation Id: 991797
ClinVar RCV Id: RCV001280068
dbSNP Id: rs373738626
ExAC: 1:24144034 T / C
gnomAD v2: 1-24144034-T-C
gnomAD v3: 1-23817544-T-C
gnomAD v4: 1-23817544-T-C
MyVariant Identifiers: chr1:g.24144034T>C (hg19) chr1:g.23817544T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23817544T>C , CM000663.2:g.23817544T>C GRCh38
NC_000001.10:g.24144034T>C , CM000663.1:g.24144034T>C GRCh37
NC_000001.9:g.24016621T>C NCBI36
NG_013061.1:g.12916A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.184A>G MANE Select ENSP00000363614.3:p.Met62Val
ENST00000235958.4:c.131+2966A>G
ENST00000374487.6:c.*225A>G ENSP00000363611.2:n.*225A>G
ENST00000374490.7:c.184A>G ENSP00000363614.3:p.Met62Val
ENST00000436439.6:c.184A>G ENSP00000389281.2:p.Met62Val
ENST00000509389.5:n.196A>G
ENST00000513148.1:n.185A>G
NM_000191.2:c.184A>G NP_000182.2:p.Met62Val
NM_001166059.1:c.184A>G NP_001159531.1:p.Met62Val
NM_000191.3:c.184A>G MANE Select NP_000182.2:p.Met62Val
NM_001166059.2:c.184A>G NP_001159531.1:p.Met62Val
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