Canonical Allele Identifier: CA686184

Gene: HMGCL

Linked Data

• dbSNP Id: rs755218532
• ExAC: 1:24144119 A / C
• gnomAD v2: 1-24144119-A-C
• gnomAD v4: 1-23817629-A-C
• MyVariant Identifiers: chr1:g.24144119A>C (hg19) ; chr1:g.23817629A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817629A>C , CM000663.2:g.23817629A>C	GRCh38
NC_000001.10:g.24144119A>C , CM000663.1:g.24144119A>C	GRCh37
NC_000001.9:g.24016706A>C	NCBI36
NG_013061.1:g.12831T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.145-46T>G MANE Select	ENSP00000363614.3:n.145-46T>G
ENST00000235958.4:c.131+2881T>G
ENST00000374487.6:c.*186-46T>G	ENSP00000363611.2:n.*186-46T>G
ENST00000374490.7:c.145-46T>G	ENSP00000363614.3:n.145-46T>G
ENST00000436439.6:c.145-46T>G	ENSP00000389281.2:n.145-46T>G
ENST00000509389.5:n.157-46T>G
ENST00000513148.1:n.146-46T>G
NM_000191.2:c.145-46T>G	NP_000182.2:n.145-46T>G
NM_001166059.1:c.145-46T>G	NP_001159531.1:n.145-46T>G
NM_000191.3:c.145-46T>G MANE Select	NP_000182.2:n.145-46T>G
NM_001166059.2:c.145-46T>G	NP_001159531.1:n.145-46T>G