Canonical Allele Identifier: CA733290262

Gene: HMGCL

Linked Data

• dbSNP Id: rs1409336401
• gnomAD v3: 1-23802450-G-A
• gnomAD v4: 1-23802450-G-A
• MyVariant Identifiers: chr1:g.24128940G>A (hg19) ; chr1:g.23802450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23802450G>A , CM000663.2:g.23802450G>A	GRCh38
NC_000001.10:g.24128940G>A , CM000663.1:g.24128940G>A	GRCh37
NC_000001.9:g.24001527G>A	NCBI36
NG_007068.1:g.3355C>T
NG_013061.1:g.28010C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.*13C>T MANE Select	ENSP00000363614.3:n.*13C>T
ENST00000235958.4:c.561C>T
ENST00000374487.6:c.*1032C>T	ENSP00000363611.2:n.*1032C>T
ENST00000374490.7:c.*13C>T	ENSP00000363614.3:n.*13C>T
ENST00000436439.6:c.*13C>T	ENSP00000389281.2:n.*13C>T
NM_000191.2:c.*13C>T	NP_000182.2:n.*13C>T
NM_001166059.1:c.*13C>T	NP_001159531.1:n.*13C>T
NM_000191.3:c.*13C>T MANE Select	NP_000182.2:n.*13C>T
NM_001166059.2:c.*13C>T	NP_001159531.1:n.*13C>T