Canonical Allele Identifier: CA339023524

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134681C>G (hg19) ; chr1:g.23808191C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808191C>G , CM000663.2:g.23808191C>G	GRCh38
NC_000001.10:g.24134681C>G , CM000663.1:g.24134681C>G	GRCh37
NC_000001.9:g.24007268C>G	NCBI36
NG_013061.1:g.22269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.694G>C MANE Select	ENSP00000363614.3:p.Val232Leu
ENST00000235958.4:c.264G>C
ENST00000374487.6:c.*735G>C	ENSP00000363611.2:n.*735G>C
ENST00000374490.7:c.694G>C	ENSP00000363614.3:p.Val232Leu
ENST00000436439.6:c.481G>C	ENSP00000389281.2:p.Val161Leu
ENST00000496907.1:n.329G>C
ENST00000509389.5:n.385G>C
NM_000191.2:c.694G>C	NP_000182.2:p.Val232Leu
NM_001166059.1:c.481G>C	NP_001159531.1:p.Val161Leu
NM_000191.3:c.694G>C MANE Select	NP_000182.2:p.Val232Leu
NM_001166059.2:c.481G>C	NP_001159531.1:p.Val161Leu