Canonical Allele Identifier: CA339028932

Gene: HMGCL

Linked Data

• dbSNP Id: rs1312974623
• gnomAD v2: 1-24143967-T-G
• gnomAD v4: 1-23817477-T-G
• MyVariant Identifiers: chr1:g.24143967T>G (hg19) ; chr1:g.23817477T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817477T>G , CM000663.2:g.23817477T>G	GRCh38
NC_000001.10:g.24143967T>G , CM000663.1:g.24143967T>G	GRCh37
NC_000001.9:g.24016554T>G	NCBI36
NG_013061.1:g.12983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.251A>C MANE Select	ENSP00000363614.3:p.Gln84Pro
ENST00000235958.4:c.131+3033A>C
ENST00000374487.6:c.*292A>C	ENSP00000363611.2:n.*292A>C
ENST00000374490.7:c.251A>C	ENSP00000363614.3:p.Gln84Pro
ENST00000436439.6:c.251A>C	ENSP00000389281.2:p.Gln84Pro
ENST00000498698.1:n.57A>C
ENST00000509389.5:n.263A>C
ENST00000513148.1:n.252A>C
NM_000191.2:c.251A>C	NP_000182.2:p.Gln84Pro
NM_001166059.1:c.251A>C	NP_001159531.1:p.Gln84Pro
NM_000191.3:c.251A>C MANE Select	NP_000182.2:p.Gln84Pro
NM_001166059.2:c.251A>C	NP_001159531.1:p.Gln84Pro