Canonical Allele Identifier: CA339029321

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24144046T>A (hg19) ; chr1:g.23817556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817556T>A , CM000663.2:g.23817556T>A	GRCh38
NC_000001.10:g.24144046T>A , CM000663.1:g.24144046T>A	GRCh37
NC_000001.9:g.24016633T>A	NCBI36
NG_013061.1:g.12904A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.172A>T MANE Select	ENSP00000363614.3:p.Lys58Ter
ENST00000235958.4:c.131+2954A>T
ENST00000374487.6:c.*213A>T	ENSP00000363611.2:n.*213A>T
ENST00000374490.7:c.172A>T	ENSP00000363614.3:p.Lys58Ter
ENST00000436439.6:c.172A>T	ENSP00000389281.2:p.Lys58Ter
ENST00000509389.5:n.184A>T
ENST00000513148.1:n.173A>T
NM_000191.2:c.172A>T	NP_000182.2:p.Lys58Ter
NM_001166059.1:c.172A>T	NP_001159531.1:p.Lys58Ter
NM_000191.3:c.172A>T MANE Select	NP_000182.2:p.Lys58Ter
NM_001166059.2:c.172A>T	NP_001159531.1:p.Lys58Ter