Canonical Allele Identifier: CA339028998

Gene: HMGCL

Linked Data

• ClinVar Variation Id: 1457586
• ClinVar RCV Id: RCV001972669
• dbSNP Id: rs2148424154
• gnomAD v4: 1-23817486-C-T
• MyVariant Identifiers: chr1:g.24143976C>T (hg19) ; chr1:g.23817486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817486C>T , CM000663.2:g.23817486C>T	GRCh38
NC_000001.10:g.24143976C>T , CM000663.1:g.24143976C>T	GRCh37
NC_000001.9:g.24016563C>T	NCBI36
NG_013061.1:g.12974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.242G>A MANE Select	ENSP00000363614.3:p.Trp81Ter
ENST00000235958.4:c.131+3024G>A
ENST00000374487.6:c.*283G>A	ENSP00000363611.2:n.*283G>A
ENST00000374490.7:c.242G>A	ENSP00000363614.3:p.Trp81Ter
ENST00000436439.6:c.242G>A	ENSP00000389281.2:p.Trp81Ter
ENST00000498698.1:n.48G>A
ENST00000509389.5:n.254G>A
ENST00000513148.1:n.243G>A
NM_000191.2:c.242G>A	NP_000182.2:p.Trp81Ter
NM_001166059.1:c.242G>A	NP_001159531.1:p.Trp81Ter
NM_000191.3:c.242G>A MANE Select	NP_000182.2:p.Trp81Ter
NM_001166059.2:c.242G>A	NP_001159531.1:p.Trp81Ter