Canonical Allele Identifier: CA339029045

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24143991A>C (hg19) ; chr1:g.23817501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817501A>C , CM000663.2:g.23817501A>C	GRCh38
NC_000001.10:g.24143991A>C , CM000663.1:g.24143991A>C	GRCh37
NC_000001.9:g.24016578A>C	NCBI36
NG_013061.1:g.12959T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.227T>G MANE Select	ENSP00000363614.3:p.Phe76Cys
ENST00000235958.4:c.131+3009T>G
ENST00000374487.6:c.*268T>G	ENSP00000363611.2:n.*268T>G
ENST00000374490.7:c.227T>G	ENSP00000363614.3:p.Phe76Cys
ENST00000436439.6:c.227T>G	ENSP00000389281.2:p.Phe76Cys
ENST00000498698.1:n.33T>G
ENST00000509389.5:n.239T>G
ENST00000513148.1:n.228T>G
NM_000191.2:c.227T>G	NP_000182.2:p.Phe76Cys
NM_001166059.1:c.227T>G	NP_001159531.1:p.Phe76Cys
NM_000191.3:c.227T>G MANE Select	NP_000182.2:p.Phe76Cys
NM_001166059.2:c.227T>G	NP_001159531.1:p.Phe76Cys