Canonical Allele Identifier: CA686183

Gene: HMGCL

Linked Data

• dbSNP Id: rs181179069
• ExAC: 1:24144117 A / G
• gnomAD v2: 1-24144117-A-G
• gnomAD v3: 1-23817627-A-G
• gnomAD v4: 1-23817627-A-G
• MyVariant Identifiers: chr1:g.24144117A>G (hg19) ; chr1:g.23817627A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817627A>G , CM000663.2:g.23817627A>G	GRCh38
NC_000001.10:g.24144117A>G , CM000663.1:g.24144117A>G	GRCh37
NC_000001.9:g.24016704A>G	NCBI36
NG_013061.1:g.12833T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.145-44T>C MANE Select	ENSP00000363614.3:n.145-44T>C
ENST00000235958.4:c.131+2883T>C
ENST00000374487.6:c.*186-44T>C	ENSP00000363611.2:n.*186-44T>C
ENST00000374490.7:c.145-44T>C	ENSP00000363614.3:n.145-44T>C
ENST00000436439.6:c.145-44T>C	ENSP00000389281.2:n.145-44T>C
ENST00000509389.5:n.157-44T>C
ENST00000513148.1:n.146-44T>C
NM_000191.2:c.145-44T>C	NP_000182.2:n.145-44T>C
NM_001166059.1:c.145-44T>C	NP_001159531.1:n.145-44T>C
NM_000191.3:c.145-44T>C MANE Select	NP_000182.2:n.145-44T>C
NM_001166059.2:c.145-44T>C	NP_001159531.1:n.145-44T>C