Canonical Allele Identifier: CA234122

Gene: HMGCL

Linked Data

• ClinVar Variation Id: 167180
• ClinVar RCV Id: RCV000153365 ; RCV000665316 ; RCV003415999 ; RCV001831955
• dbSNP Id: rs727503963
• gnomAD v2: 1-24134677-T-C
• gnomAD v3: 1-23808187-T-C
• gnomAD v4: 1-23808187-T-C
• MyVariant Identifiers: chr1:g.24134677T>C (hg19) ; chr1:g.23808187T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808187T>C , CM000663.2:g.23808187T>C	GRCh38
NC_000001.10:g.24134677T>C , CM000663.1:g.24134677T>C	GRCh37
NC_000001.9:g.24007264T>C	NCBI36
NG_013061.1:g.22273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.698A>G MANE Select	ENSP00000363614.3:p.His233Arg
ENST00000235958.4:c.268A>G
ENST00000374487.6:c.*739A>G	ENSP00000363611.2:n.*739A>G
ENST00000374490.7:c.698A>G	ENSP00000363614.3:p.His233Arg
ENST00000436439.6:c.485A>G	ENSP00000389281.2:p.His162Arg
ENST00000496907.1:n.333A>G
ENST00000509389.5:n.389A>G
NM_000191.2:c.698A>G	NP_000182.2:p.His233Arg
NM_001166059.1:c.485A>G	NP_001159531.1:p.His162Arg
NM_000191.3:c.698A>G MANE Select	NP_000182.2:p.His233Arg
NM_001166059.2:c.485A>G	NP_001159531.1:p.His162Arg