Canonical Allele Identifier: CA733349408

Gene: HMGCL

Linked Data

• dbSNP Id: rs1271954036
• gnomAD v4: 1-23817391-T-C
• MyVariant Identifiers: chr1:g.24143881T>C (hg19) ; chr1:g.23817391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817391T>C , CM000663.2:g.23817391T>C	GRCh38
NC_000001.10:g.24143881T>C , CM000663.1:g.24143881T>C	GRCh37
NC_000001.9:g.24016468T>C	NCBI36
NG_013061.1:g.13069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.252+85A>G MANE Select	ENSP00000363614.3:n.252+85A>G
ENST00000235958.4:c.131+3119A>G
ENST00000374487.6:c.*293+85A>G	ENSP00000363611.2:n.*293+85A>G
ENST00000374490.7:c.252+85A>G	ENSP00000363614.3:n.252+85A>G
ENST00000436439.6:c.252+85A>G	ENSP00000389281.2:n.252+85A>G
ENST00000498698.1:n.58+85A>G
ENST00000509389.5:n.264+85A>G
ENST00000513148.1:n.253+85A>G
NM_000191.2:c.252+85A>G	NP_000182.2:n.252+85A>G
NM_001166059.1:c.252+85A>G	NP_001159531.1:n.252+85A>G
NM_000191.3:c.252+85A>G MANE Select	NP_000182.2:n.252+85A>G
NM_001166059.2:c.252+85A>G	NP_001159531.1:n.252+85A>G