Canonical Allele Identifier: CA521903388

Gene: HMGCL

Linked Data

• dbSNP Id: rs1160741752
• gnomAD v2: 1-24134583-C-T
• gnomAD v4: 1-23808093-C-T
• MyVariant Identifiers: chr1:g.24134583C>T (hg19) ; chr1:g.23808093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808093C>T , CM000663.2:g.23808093C>T	GRCh38
NC_000001.10:g.24134583C>T , CM000663.1:g.24134583C>T	GRCh37
NC_000001.9:g.24007170C>T	NCBI36
NG_013061.1:g.22367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+42G>A MANE Select	ENSP00000363614.3:n.750+42G>A
ENST00000235958.4:c.320+42G>A
ENST00000374487.6:c.*791+42G>A	ENSP00000363611.2:n.*791+42G>A
ENST00000374490.7:c.750+42G>A	ENSP00000363614.3:n.750+42G>A
ENST00000436439.6:c.537+42G>A	ENSP00000389281.2:n.537+42G>A
ENST00000496907.1:n.385+42G>A
ENST00000509389.5:n.441+42G>A
NM_000191.2:c.750+42G>A	NP_000182.2:n.750+42G>A
NM_001166059.1:c.537+42G>A	NP_001159531.1:n.537+42G>A
NM_000191.3:c.750+42G>A MANE Select	NP_000182.2:n.750+42G>A
NM_001166059.2:c.537+42G>A	NP_001159531.1:n.537+42G>A