Canonical Allele Identifier: CA339019389
Gene: HMGCL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23802496G>T , CM000663.2:g.23802496G>T GRCh38
NC_000001.10:g.24128986G>T , CM000663.1:g.24128986G>T GRCh37
NC_000001.9:g.24001573G>T NCBI36
NG_007068.1:g.3309C>A
NG_013061.1:g.27964C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.945C>A MANE Select ENSP00000363614.3:p.Ser315Arg
ENST00000235958.4:c.515C>A
ENST00000374487.6:c.*986C>A ENSP00000363611.2:n.*986C>A
ENST00000374490.7:c.945C>A ENSP00000363614.3:p.Ser315Arg
ENST00000436439.6:c.732C>A ENSP00000389281.2:p.Ser244Arg
NM_000191.2:c.945C>A NP_000182.2:p.Ser315Arg
NM_001166059.1:c.732C>A NP_001159531.1:p.Ser244Arg
NM_000191.3:c.945C>A MANE Select NP_000182.2:p.Ser315Arg
NM_001166059.2:c.732C>A NP_001159531.1:p.Ser244Arg