Canonical Allele Identifier: CA685984

Gene: HMGCL

Linked Data

• dbSNP Id: rs755135558
• ExAC: 1:24134575 T / C
• gnomAD v2: 1-24134575-T-C
• gnomAD v3: 1-23808085-T-C
• gnomAD v4: 1-23808085-T-C
• MyVariant Identifiers: chr1:g.24134575T>C (hg19) ; chr1:g.23808085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808085T>C , CM000663.2:g.23808085T>C	GRCh38
NC_000001.10:g.24134575T>C , CM000663.1:g.24134575T>C	GRCh37
NC_000001.9:g.24007162T>C	NCBI36
NG_013061.1:g.22375A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+50A>G MANE Select	ENSP00000363614.3:n.750+50A>G
ENST00000235958.4:c.320+50A>G
ENST00000374487.6:c.*791+50A>G	ENSP00000363611.2:n.*791+50A>G
ENST00000374490.7:c.750+50A>G	ENSP00000363614.3:n.750+50A>G
ENST00000436439.6:c.537+50A>G	ENSP00000389281.2:n.537+50A>G
ENST00000496907.1:n.385+50A>G
ENST00000509389.5:n.441+50A>G
NM_000191.2:c.750+50A>G	NP_000182.2:n.750+50A>G
NM_001166059.1:c.537+50A>G	NP_001159531.1:n.537+50A>G
NM_000191.3:c.750+50A>G MANE Select	NP_000182.2:n.750+50A>G
NM_001166059.2:c.537+50A>G	NP_001159531.1:n.537+50A>G