Canonical Allele Identifier: CA686147

Gene: HMGCL

Linked Data

• dbSNP Id: rs528406367
• ExAC: 1:24143925 C / T
• gnomAD v2: 1-24143925-C-T
• gnomAD v3: 1-23817435-C-T
• gnomAD v4: 1-23817435-C-T
• MyVariant Identifiers: chr1:g.24143925C>T (hg19) ; chr1:g.23817435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817435C>T , CM000663.2:g.23817435C>T	GRCh38
NC_000001.10:g.24143925C>T , CM000663.1:g.24143925C>T	GRCh37
NC_000001.9:g.24016512C>T	NCBI36
NG_013061.1:g.13025G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.252+41G>A MANE Select	ENSP00000363614.3:n.252+41G>A
ENST00000235958.4:c.131+3075G>A
ENST00000374487.6:c.*293+41G>A	ENSP00000363611.2:n.*293+41G>A
ENST00000374490.7:c.252+41G>A	ENSP00000363614.3:n.252+41G>A
ENST00000436439.6:c.252+41G>A	ENSP00000389281.2:n.252+41G>A
ENST00000498698.1:n.58+41G>A
ENST00000509389.5:n.264+41G>A
ENST00000513148.1:n.253+41G>A
NM_000191.2:c.252+41G>A	NP_000182.2:n.252+41G>A
NM_001166059.1:c.252+41G>A	NP_001159531.1:n.252+41G>A
NM_000191.3:c.252+41G>A MANE Select	NP_000182.2:n.252+41G>A
NM_001166059.2:c.252+41G>A	NP_001159531.1:n.252+41G>A