Canonical Allele Identifier: CA999594332

Gene: HMGCL

Linked Data

• dbSNP Id: rs1638696724
• gnomAD v3: 1-23820442-C-T
• gnomAD v4: 1-23820442-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23820442C>T , CM000663.2:g.23820442C>T	GRCh38
NC_000001.10:g.24146932C>T , CM000663.1:g.24146932C>T	GRCh37
NC_000001.9:g.24019519C>T	NCBI36
NG_013061.1:g.10018G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.144+68G>A MANE Select	ENSP00000363614.3:n.144+68G>A
ENST00000235958.4:c.131+68G>A
ENST00000374487.6:c.*185+68G>A	ENSP00000363611.2:n.*185+68G>A
ENST00000374490.7:c.144+68G>A	ENSP00000363614.3:n.144+68G>A
ENST00000436439.6:c.144+68G>A	ENSP00000389281.2:n.144+68G>A
ENST00000509389.5:n.156+68G>A
ENST00000513148.1:n.145+68G>A
NM_000191.2:c.144+68G>A	NP_000182.2:n.144+68G>A
NM_001166059.1:c.144+68G>A	NP_001159531.1:n.144+68G>A
NM_000191.3:c.144+68G>A MANE Select	NP_000182.2:n.144+68G>A
NM_001166059.2:c.144+68G>A	NP_001159531.1:n.144+68G>A