Canonical Allele Identifier: CA416620871

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134631G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808141G>A , CM000663.2:g.23808141G>A	GRCh38
NC_000001.10:g.24134631G>A , CM000663.1:g.24134631G>A	GRCh37
NC_000001.9:g.24007218G>A	NCBI36
NG_013061.1:g.22319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.744C>T MANE Select	ENSP00000363614.3:p.Ala248=
ENST00000235958.4:c.314C>T
ENST00000374487.6:c.*785C>T	ENSP00000363611.2:n.*785C>T
ENST00000374490.7:c.744C>T	ENSP00000363614.3:p.Ala248=
ENST00000436439.6:c.531C>T	ENSP00000389281.2:p.Ala177=
ENST00000496907.1:n.379C>T
ENST00000509389.5:n.435C>T
NM_000191.2:c.744C>T	NP_000182.2:p.Ala248=
NM_001166059.1:c.531C>T	NP_001159531.1:p.Ala177=
NM_000191.3:c.744C>T MANE Select	NP_000182.2:p.Ala248=
NM_001166059.2:c.531C>T	NP_001159531.1:p.Ala177=