Canonical Allele Identifier: CA1158967991
Gene: HMGCL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23817430C= , CM000663.2:g.23817430C= GRCh38
NC_000001.10:g.24143920C= , CM000663.1:g.24143920C= GRCh37
NC_000001.9:g.24016507C= NCBI36
NG_013061.1:g.13030G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.252+46G= MANE Select ENSP00000363614.3:n.252+46G=
ENST00000235958.4:c.131+3080G=
ENST00000374487.6:c.*293+46G= ENSP00000363611.2:n.*293+46G=
ENST00000374490.7:c.252+46G= ENSP00000363614.3:n.252+46G=
ENST00000436439.6:c.252+46G= ENSP00000389281.2:n.252+46G=
ENST00000498698.1:n.58+46G=
ENST00000509389.5:n.264+46G=
ENST00000513148.1:n.253+46G=
NM_000191.2:c.252+46G= NP_000182.2:n.252+46G=
NM_001166059.1:c.252+46G= NP_001159531.1:n.252+46G=
NM_000191.3:c.252+46G= MANE Select NP_000182.2:n.252+46G=
NM_001166059.2:c.252+46G= NP_001159531.1:n.252+46G=