Canonical Allele Identifier: CA339029409

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24144068G>C (hg19) ; chr1:g.23817578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817578G>C , CM000663.2:g.23817578G>C	GRCh38
NC_000001.10:g.24144068G>C , CM000663.1:g.24144068G>C	GRCh37
NC_000001.9:g.24016655G>C	NCBI36
NG_013061.1:g.12882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.150C>G MANE Select	ENSP00000363614.3:p.Ile50Met
ENST00000235958.4:c.131+2932C>G
ENST00000374487.6:c.*191C>G	ENSP00000363611.2:n.*191C>G
ENST00000374490.7:c.150C>G	ENSP00000363614.3:p.Ile50Met
ENST00000436439.6:c.150C>G	ENSP00000389281.2:p.Ile50Met
ENST00000509389.5:n.162C>G
ENST00000513148.1:n.151C>G
NM_000191.2:c.150C>G	NP_000182.2:p.Ile50Met
NM_001166059.1:c.150C>G	NP_001159531.1:p.Ile50Met
NM_000191.3:c.150C>G MANE Select	NP_000182.2:p.Ile50Met
NM_001166059.2:c.150C>G	NP_001159531.1:p.Ile50Met