Canonical Allele Identifier: CA1144145408
Gene: HMGCL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23817441T= , CM000663.2:g.23817441T= GRCh38
NC_000001.10:g.24143931T= , CM000663.1:g.24143931T= GRCh37
NC_000001.9:g.24016518T= NCBI36
NG_013061.1:g.13019A=

Transcript Alleles

HGVS Amino-acid change
ENST00000374490.8:c.252+35A= MANE Select ENSP00000363614.3:n.252+35A=
ENST00000235958.4:c.131+3069A=
ENST00000374487.6:c.*293+35A= ENSP00000363611.2:n.*293+35A=
ENST00000374490.7:c.252+35A= ENSP00000363614.3:n.252+35A=
ENST00000436439.6:c.252+35A= ENSP00000389281.2:n.252+35A=
ENST00000498698.1:n.58+35A=
ENST00000509389.5:n.264+35A=
ENST00000513148.1:n.253+35A=
NM_000191.2:c.252+35A= NP_000182.2:n.252+35A=
NM_001166059.1:c.252+35A= NP_001159531.1:n.252+35A=
NM_000191.3:c.252+35A= MANE Select NP_000182.2:n.252+35A=
NM_001166059.2:c.252+35A= NP_001159531.1:n.252+35A=