Canonical Allele Identifier: CA521903392

Gene: HMGCL

Linked Data

• dbSNP Id: rs1461406971
• gnomAD v2: 1-24134614-C-A
• gnomAD v3: 1-23808124-C-A
• gnomAD v4: 1-23808124-C-A
• MyVariant Identifiers: chr1:g.24134614C>A (hg19) ; chr1:g.23808124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808124C>A , CM000663.2:g.23808124C>A	GRCh38
NC_000001.10:g.24134614C>A , CM000663.1:g.24134614C>A	GRCh37
NC_000001.9:g.24007201C>A	NCBI36
NG_013061.1:g.22336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+11G>T MANE Select	ENSP00000363614.3:n.750+11G>T
ENST00000235958.4:c.320+11G>T
ENST00000374487.6:c.*791+11G>T	ENSP00000363611.2:n.*791+11G>T
ENST00000374490.7:c.750+11G>T	ENSP00000363614.3:n.750+11G>T
ENST00000436439.6:c.537+11G>T	ENSP00000389281.2:n.537+11G>T
ENST00000496907.1:n.385+11G>T
ENST00000509389.5:n.441+11G>T
NM_000191.2:c.750+11G>T	NP_000182.2:n.750+11G>T
NM_001166059.1:c.537+11G>T	NP_001159531.1:n.537+11G>T
NM_000191.3:c.750+11G>T MANE Select	NP_000182.2:n.750+11G>T
NM_001166059.2:c.537+11G>T	NP_001159531.1:n.537+11G>T