Canonical Allele Identifier: CA2742818698

Gene: HMGCL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808047T>A , CM000663.2:g.23808047T>A	GRCh38
NC_000001.10:g.24134537T>A , CM000663.1:g.24134537T>A	GRCh37
NC_000001.9:g.24007124T>A	NCBI36
NG_013061.1:g.22413A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+88A>T MANE Select	ENSP00000363614.3:n.750+88A>T
ENST00000235958.4:c.320+88A>T
ENST00000374487.6:c.*791+88A>T	ENSP00000363611.2:n.*791+88A>T
ENST00000374490.7:c.750+88A>T	ENSP00000363614.3:n.750+88A>T
ENST00000436439.6:c.537+88A>T	ENSP00000389281.2:n.537+88A>T
ENST00000496907.1:n.385+88A>T
ENST00000509389.5:n.441+88A>T
NM_000191.2:c.750+88A>T	NP_000182.2:n.750+88A>T
NM_001166059.1:c.537+88A>T	NP_001159531.1:n.537+88A>T
NM_000191.3:c.750+88A>T MANE Select	NP_000182.2:n.750+88A>T
NM_001166059.2:c.537+88A>T	NP_001159531.1:n.537+88A>T