Canonical Allele Identifier: CA686010

Gene: HMGCL

Linked Data

• ClinVar Variation Id: 1121315
• ClinVar RCV Id: RCV001451547
• dbSNP Id: rs779813777
• ExAC: 1:24134723 G / A
• gnomAD v2: 1-24134723-G-A
• gnomAD v4: 1-23808233-G-A
• MyVariant Identifiers: chr1:g.24134723G>A (hg19) ; chr1:g.23808233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808233G>A , CM000663.2:g.23808233G>A	GRCh38
NC_000001.10:g.24134723G>A , CM000663.1:g.24134723G>A	GRCh37
NC_000001.9:g.24007310G>A	NCBI36
NG_013061.1:g.22227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.652C>T MANE Select	ENSP00000363614.3:p.Leu218=
ENST00000235958.4:c.222C>T
ENST00000374487.6:c.*693C>T	ENSP00000363611.2:n.*693C>T
ENST00000374490.7:c.652C>T	ENSP00000363614.3:p.Leu218=
ENST00000436439.6:c.439C>T	ENSP00000389281.2:p.Leu147=
ENST00000496907.1:n.287C>T
ENST00000509389.5:n.361-18C>T
NM_000191.2:c.652C>T	NP_000182.2:p.Leu218=
NM_001166059.1:c.439C>T	NP_001159531.1:p.Leu147=
NM_000191.3:c.652C>T MANE Select	NP_000182.2:p.Leu218=
NM_001166059.2:c.439C>T	NP_001159531.1:p.Leu147=