Canonical Allele Identifier: CA685839

Gene: HMGCL

Linked Data

• dbSNP Id: rs764755014
• ExAC: 1:24128921 A / T
• gnomAD v2: 1-24128921-A-T
• gnomAD v4: 1-23802431-A-T
• MyVariant Identifiers: chr1:g.24128921A>T (hg19) ; chr1:g.23802431A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23802431A>T , CM000663.2:g.23802431A>T	GRCh38
NC_000001.10:g.24128921A>T , CM000663.1:g.24128921A>T	GRCh37
NC_000001.9:g.24001508A>T	NCBI36
NG_007068.1:g.3374T>A
NG_013061.1:g.28029T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.*32T>A MANE Select	ENSP00000363614.3:n.*32T>A
ENST00000235958.4:c.580T>A
ENST00000374487.6:c.*1051T>A	ENSP00000363611.2:n.*1051T>A
ENST00000374490.7:c.*32T>A	ENSP00000363614.3:n.*32T>A
ENST00000436439.6:c.*32T>A	ENSP00000389281.2:n.*32T>A
NM_000191.2:c.*32T>A	NP_000182.2:n.*32T>A
NM_001166059.1:c.*32T>A	NP_001159531.1:n.*32T>A
NM_000191.3:c.*32T>A MANE Select	NP_000182.2:n.*32T>A
NM_001166059.2:c.*32T>A	NP_001159531.1:n.*32T>A