Canonical Allele Identifier: CA685923

Gene: HMGCL

Linked Data

• ClinVar Variation Id: 2995706
• ClinVar RCV Id: RCV003853793
• dbSNP Id: rs775623783
• ExAC: 1:24131026 A / G
• gnomAD v2: 1-24131026-A-G
• gnomAD v3: 1-23804536-A-G
• gnomAD v4: 1-23804536-A-G
• MyVariant Identifiers: chr1:g.24131026A>G (hg19) ; chr1:g.23804536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23804536A>G , CM000663.2:g.23804536A>G	GRCh38
NC_000001.10:g.24131026A>G , CM000663.1:g.24131026A>G	GRCh37
NC_000001.9:g.24003613A>G	NCBI36
NG_007068.1:g.1269T>C
NG_013061.1:g.25924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.751-11T>C MANE Select	ENSP00000363614.3:n.751-11T>C
ENST00000235958.4:c.321-11T>C
ENST00000374487.6:c.*792-11T>C	ENSP00000363611.2:n.*792-11T>C
ENST00000374490.7:c.751-11T>C	ENSP00000363614.3:n.751-11T>C
ENST00000436439.6:c.538-11T>C	ENSP00000389281.2:n.538-11T>C
ENST00000509389.5:n.442-11T>C
NM_000191.2:c.751-11T>C	NP_000182.2:n.751-11T>C
NM_001166059.1:c.538-11T>C	NP_001159531.1:n.538-11T>C
NM_000191.3:c.751-11T>C MANE Select	NP_000182.2:n.751-11T>C
NM_001166059.2:c.538-11T>C	NP_001159531.1:n.538-11T>C