Canonical Allele Identifier: CA2644076025

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23808049-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808049A>C , CM000663.2:g.23808049A>C	GRCh38
NC_000001.10:g.24134539A>C , CM000663.1:g.24134539A>C	GRCh37
NC_000001.9:g.24007126A>C	NCBI36
NG_013061.1:g.22411T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+86T>G MANE Select	ENSP00000363614.3:n.750+86T>G
ENST00000235958.4:c.320+86T>G
ENST00000374487.6:c.*791+86T>G	ENSP00000363611.2:n.*791+86T>G
ENST00000374490.7:c.750+86T>G	ENSP00000363614.3:n.750+86T>G
ENST00000436439.6:c.537+86T>G	ENSP00000389281.2:n.537+86T>G
ENST00000496907.1:n.385+86T>G
ENST00000509389.5:n.441+86T>G
NM_000191.2:c.750+86T>G	NP_000182.2:n.750+86T>G
NM_001166059.1:c.537+86T>G	NP_001159531.1:n.537+86T>G
NM_000191.3:c.750+86T>G MANE Select	NP_000182.2:n.750+86T>G
NM_001166059.2:c.537+86T>G	NP_001159531.1:n.537+86T>G