Canonical Allele Identifier: CA339024260

Gene: HMGCL

Linked Data

• ClinVar Variation Id: 933868
• ClinVar RCV Id: RCV001202170 ; RCV001828623
• dbSNP Id: rs1445870588
• gnomAD v3: 1-23808271-G-C
• gnomAD v4: 1-23808271-G-C
• MyVariant Identifiers: chr1:g.24134761G>C (hg19) ; chr1:g.23808271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808271G>C , CM000663.2:g.23808271G>C	GRCh38
NC_000001.10:g.24134761G>C , CM000663.1:g.24134761G>C	GRCh37
NC_000001.9:g.24007348G>C	NCBI36
NG_013061.1:g.22189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.614C>G MANE Select	ENSP00000363614.3:p.Thr205Ser
ENST00000235958.4:c.184C>G
ENST00000374487.6:c.*655C>G	ENSP00000363611.2:n.*655C>G
ENST00000374490.7:c.614C>G	ENSP00000363614.3:p.Thr205Ser
ENST00000436439.6:c.401C>G	ENSP00000389281.2:p.Thr134Ser
ENST00000496907.1:n.249C>G
ENST00000509389.5:n.361-56C>G
NM_000191.2:c.614C>G	NP_000182.2:p.Thr205Ser
NM_001166059.1:c.401C>G	NP_001159531.1:p.Thr134Ser
NM_000191.3:c.614C>G MANE Select	NP_000182.2:p.Thr205Ser
NM_001166059.2:c.401C>G	NP_001159531.1:p.Thr134Ser