Canonical Allele Identifier: CA339028976

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24143973A>T (hg19) ; chr1:g.23817483A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817483A>T , CM000663.2:g.23817483A>T	GRCh38
NC_000001.10:g.24143973A>T , CM000663.1:g.24143973A>T	GRCh37
NC_000001.9:g.24016560A>T	NCBI36
NG_013061.1:g.12977T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.245T>A MANE Select	ENSP00000363614.3:p.Val82Asp
ENST00000235958.4:c.131+3027T>A
ENST00000374487.6:c.*286T>A	ENSP00000363611.2:n.*286T>A
ENST00000374490.7:c.245T>A	ENSP00000363614.3:p.Val82Asp
ENST00000436439.6:c.245T>A	ENSP00000389281.2:p.Val82Asp
ENST00000498698.1:n.51T>A
ENST00000509389.5:n.257T>A
ENST00000513148.1:n.246T>A
NM_000191.2:c.245T>A	NP_000182.2:p.Val82Asp
NM_001166059.1:c.245T>A	NP_001159531.1:p.Val82Asp
NM_000191.3:c.245T>A MANE Select	NP_000182.2:p.Val82Asp
NM_001166059.2:c.245T>A	NP_001159531.1:p.Val82Asp