Canonical Allele Identifier: CA1139911477
Gene: HMGCL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23817442A= , CM000663.2:g.23817442A= GRCh38
NC_000001.10:g.24143932A= , CM000663.1:g.24143932A= GRCh37
NC_000001.9:g.24016519A= NCBI36
NG_013061.1:g.13018T=

Transcript Alleles

HGVS Amino-acid change
ENST00000374490.8:c.252+34T= MANE Select ENSP00000363614.3:n.252+34T=
ENST00000235958.4:c.131+3068T=
ENST00000374487.6:c.*293+34T= ENSP00000363611.2:n.*293+34T=
ENST00000374490.7:c.252+34T= ENSP00000363614.3:n.252+34T=
ENST00000436439.6:c.252+34T= ENSP00000389281.2:n.252+34T=
ENST00000498698.1:n.58+34T=
ENST00000509389.5:n.264+34T=
ENST00000513148.1:n.253+34T=
NM_000191.2:c.252+34T= NP_000182.2:n.252+34T=
NM_001166059.1:c.252+34T= NP_001159531.1:n.252+34T=
NM_000191.3:c.252+34T= MANE Select NP_000182.2:n.252+34T=
NM_001166059.2:c.252+34T= NP_001159531.1:n.252+34T=