Canonical Allele Identifier: CA339023251

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134655T>A (hg19) ; chr1:g.23808165T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808165T>A , CM000663.2:g.23808165T>A	GRCh38
NC_000001.10:g.24134655T>A , CM000663.1:g.24134655T>A	GRCh37
NC_000001.9:g.24007242T>A	NCBI36
NG_013061.1:g.22295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.720A>T MANE Select	ENSP00000363614.3:p.Gln240His
ENST00000235958.4:c.290A>T
ENST00000374487.6:c.*761A>T	ENSP00000363611.2:n.*761A>T
ENST00000374490.7:c.720A>T	ENSP00000363614.3:p.Gln240His
ENST00000436439.6:c.507A>T	ENSP00000389281.2:p.Gln169His
ENST00000496907.1:n.355A>T
ENST00000509389.5:n.411A>T
NM_000191.2:c.720A>T	NP_000182.2:p.Gln240His
NM_001166059.1:c.507A>T	NP_001159531.1:p.Gln169His
NM_000191.3:c.720A>T MANE Select	NP_000182.2:p.Gln240His
NM_001166059.2:c.507A>T	NP_001159531.1:p.Gln169His