Canonical Allele Identifier: CA685917
Gene: HMGCL HGNC NCBI

Linked Data

ClinVar Variation Id: 991793
ClinVar RCV Id: RCV001280064
dbSNP Id: rs778296169
gnomAD v2: 1-24131001-G-A
gnomAD v3: 1-23804511-G-A
gnomAD v4: 1-23804511-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23804511G>A , CM000663.2:g.23804511G>A GRCh38
NC_000001.10:g.24131001G>A , CM000663.1:g.24131001G>A GRCh37
NC_000001.9:g.24003588G>A NCBI36
NG_007068.1:g.1294C>T
NG_013061.1:g.25949C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.765C>T MANE Select ENSP00000363614.3:p.Val255=
ENST00000235958.4:c.335C>T
ENST00000374487.6:c.*806C>T ENSP00000363611.2:n.*806C>T
ENST00000374490.7:c.765C>T ENSP00000363614.3:p.Val255=
ENST00000436439.6:c.552C>T ENSP00000389281.2:p.Val184=
ENST00000509389.5:n.456C>T
NM_000191.2:c.765C>T NP_000182.2:p.Val255=
NM_001166059.1:c.552C>T NP_001159531.1:p.Val184=
NM_000191.3:c.765C>T MANE Select NP_000182.2:p.Val255=
NM_001166059.2:c.552C>T NP_001159531.1:p.Val184=