Canonical Allele Identifier: CA685840

Gene: HMGCL

Linked Data

• dbSNP Id: rs757451190
• ExAC: 1:24128937 C / A
• gnomAD v2: 1-24128937-C-A
• gnomAD v4: 1-23802447-C-A
• MyVariant Identifiers: chr1:g.24128937C>A (hg19) ; chr1:g.23802447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23802447C>A , CM000663.2:g.23802447C>A	GRCh38
NC_000001.10:g.24128937C>A , CM000663.1:g.24128937C>A	GRCh37
NC_000001.9:g.24001524C>A	NCBI36
NG_007068.1:g.3358G>T
NG_013061.1:g.28013G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.*16G>T MANE Select	ENSP00000363614.3:n.*16G>T
ENST00000235958.4:c.564G>T
ENST00000374487.6:c.*1035G>T	ENSP00000363611.2:n.*1035G>T
ENST00000374490.7:c.*16G>T	ENSP00000363614.3:n.*16G>T
ENST00000436439.6:c.*16G>T	ENSP00000389281.2:n.*16G>T
NM_000191.2:c.*16G>T	NP_000182.2:n.*16G>T
NM_001166059.1:c.*16G>T	NP_001159531.1:n.*16G>T
NM_000191.3:c.*16G>T MANE Select	NP_000182.2:n.*16G>T
NM_001166059.2:c.*16G>T	NP_001159531.1:n.*16G>T