Canonical Allele Identifier: CA2644080431

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23817346-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817346T>A , CM000663.2:g.23817346T>A	GRCh38
NC_000001.10:g.24143836T>A , CM000663.1:g.24143836T>A	GRCh37
NC_000001.9:g.24016423T>A	NCBI36
NG_013061.1:g.13114A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.252+130A>T MANE Select	ENSP00000363614.3:n.252+130A>T
ENST00000235958.4:c.131+3164A>T
ENST00000374487.6:c.*293+130A>T	ENSP00000363611.2:n.*293+130A>T
ENST00000374490.7:c.252+130A>T	ENSP00000363614.3:n.252+130A>T
ENST00000436439.6:c.252+130A>T	ENSP00000389281.2:n.252+130A>T
ENST00000498698.1:n.58+130A>T
ENST00000509389.5:n.264+130A>T
ENST00000513148.1:n.253+130A>T
NM_000191.2:c.252+130A>T	NP_000182.2:n.252+130A>T
NM_001166059.1:c.252+130A>T	NP_001159531.1:n.252+130A>T
NM_000191.3:c.252+130A>T MANE Select	NP_000182.2:n.252+130A>T
NM_001166059.2:c.252+130A>T	NP_001159531.1:n.252+130A>T