Canonical Allele Identifier: CA339023972

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134722A>C (hg19) ; chr1:g.23808232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808232A>C , CM000663.2:g.23808232A>C	GRCh38
NC_000001.10:g.24134722A>C , CM000663.1:g.24134722A>C	GRCh37
NC_000001.9:g.24007309A>C	NCBI36
NG_013061.1:g.22228T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.653T>G MANE Select	ENSP00000363614.3:p.Leu218Arg
ENST00000235958.4:c.223T>G
ENST00000374487.6:c.*694T>G	ENSP00000363611.2:n.*694T>G
ENST00000374490.7:c.653T>G	ENSP00000363614.3:p.Leu218Arg
ENST00000436439.6:c.440T>G	ENSP00000389281.2:p.Leu147Arg
ENST00000496907.1:n.288T>G
ENST00000509389.5:n.361-17T>G
NM_000191.2:c.653T>G	NP_000182.2:p.Leu218Arg
NM_001166059.1:c.440T>G	NP_001159531.1:p.Leu147Arg
NM_000191.3:c.653T>G MANE Select	NP_000182.2:p.Leu218Arg
NM_001166059.2:c.440T>G	NP_001159531.1:p.Leu147Arg