Canonical Allele Identifier: CA339029024

Gene: HMGCL

Linked Data

• dbSNP Id: rs754253328
• gnomAD v3: 1-23817495-G-T
• gnomAD v4: 1-23817495-G-T
• MyVariant Identifiers: chr1:g.24143985G>T (hg19) ; chr1:g.23817495G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817495G>T , CM000663.2:g.23817495G>T	GRCh38
NC_000001.10:g.24143985G>T , CM000663.1:g.24143985G>T	GRCh37
NC_000001.9:g.24016572G>T	NCBI36
NG_013061.1:g.12965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.233C>A MANE Select	ENSP00000363614.3:p.Ser78Tyr
ENST00000235958.4:c.131+3015C>A
ENST00000374487.6:c.*274C>A	ENSP00000363611.2:n.*274C>A
ENST00000374490.7:c.233C>A	ENSP00000363614.3:p.Ser78Tyr
ENST00000436439.6:c.233C>A	ENSP00000389281.2:p.Ser78Tyr
ENST00000498698.1:n.39C>A
ENST00000509389.5:n.245C>A
ENST00000513148.1:n.234C>A
NM_000191.2:c.233C>A	NP_000182.2:p.Ser78Tyr
NM_001166059.1:c.233C>A	NP_001159531.1:p.Ser78Tyr
NM_000191.3:c.233C>A MANE Select	NP_000182.2:p.Ser78Tyr
NM_001166059.2:c.233C>A	NP_001159531.1:p.Ser78Tyr