Canonical Allele Identifier: CA339029196

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24144022C>T (hg19) ; chr1:g.23817532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817532C>T , CM000663.2:g.23817532C>T	GRCh38
NC_000001.10:g.24144022C>T , CM000663.1:g.24144022C>T	GRCh37
NC_000001.9:g.24016609C>T	NCBI36
NG_013061.1:g.12928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.196G>A MANE Select	ENSP00000363614.3:p.Ala66Thr
ENST00000235958.4:c.131+2978G>A
ENST00000374487.6:c.*237G>A	ENSP00000363611.2:n.*237G>A
ENST00000374490.7:c.196G>A	ENSP00000363614.3:p.Ala66Thr
ENST00000436439.6:c.196G>A	ENSP00000389281.2:p.Ala66Thr
ENST00000498698.1:n.2G>A
ENST00000509389.5:n.208G>A
ENST00000513148.1:n.197G>A
NM_000191.2:c.196G>A	NP_000182.2:p.Ala66Thr
NM_001166059.1:c.196G>A	NP_001159531.1:p.Ala66Thr
NM_000191.3:c.196G>A MANE Select	NP_000182.2:p.Ala66Thr
NM_001166059.2:c.196G>A	NP_001159531.1:p.Ala66Thr