Canonical Allele Identifier: CA416624446

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24144011A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817521A>C , CM000663.2:g.23817521A>C	GRCh38
NC_000001.10:g.24144011A>C , CM000663.1:g.24144011A>C	GRCh37
NC_000001.9:g.24016598A>C	NCBI36
NG_013061.1:g.12939T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.207T>G MANE Select	ENSP00000363614.3:p.Ser69=
ENST00000235958.4:c.131+2989T>G
ENST00000374487.6:c.*248T>G	ENSP00000363611.2:n.*248T>G
ENST00000374490.7:c.207T>G	ENSP00000363614.3:p.Ser69=
ENST00000436439.6:c.207T>G	ENSP00000389281.2:p.Ser69=
ENST00000498698.1:n.13T>G
ENST00000509389.5:n.219T>G
ENST00000513148.1:n.208T>G
NM_000191.2:c.207T>G	NP_000182.2:p.Ser69=
NM_001166059.1:c.207T>G	NP_001159531.1:p.Ser69=
NM_000191.3:c.207T>G MANE Select	NP_000182.2:p.Ser69=
NM_001166059.2:c.207T>G	NP_001159531.1:p.Ser69=