Canonical Allele Identifier: CA1158970268

Gene: HMGCL

Linked Data

• dbSNP Id: rs1638696676
• gnomAD v4: 1-23820441-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23820441A>C , CM000663.2:g.23820441A>C	GRCh38
NC_000001.10:g.24146931A>C , CM000663.1:g.24146931A>C	GRCh37
NC_000001.9:g.24019518A>C	NCBI36
NG_013061.1:g.10019T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.144+69T>G MANE Select	ENSP00000363614.3:n.144+69T>G
ENST00000235958.4:c.131+69T>G
ENST00000374487.6:c.*185+69T>G	ENSP00000363611.2:n.*185+69T>G
ENST00000374490.7:c.144+69T>G	ENSP00000363614.3:n.144+69T>G
ENST00000436439.6:c.144+69T>G	ENSP00000389281.2:n.144+69T>G
ENST00000509389.5:n.156+69T>G
ENST00000513148.1:n.145+69T>G
NM_000191.2:c.144+69T>G	NP_000182.2:n.144+69T>G
NM_001166059.1:c.144+69T>G	NP_001159531.1:n.144+69T>G
NM_000191.3:c.144+69T>G MANE Select	NP_000182.2:n.144+69T>G
NM_001166059.2:c.144+69T>G	NP_001159531.1:n.144+69T>G