Canonical Allele Identifier: CA339023089

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24134633C>G (hg19) ; chr1:g.23808143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808143C>G , CM000663.2:g.23808143C>G	GRCh38
NC_000001.10:g.24134633C>G , CM000663.1:g.24134633C>G	GRCh37
NC_000001.9:g.24007220C>G	NCBI36
NG_013061.1:g.22317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.742G>C MANE Select	ENSP00000363614.3:p.Ala248Pro
ENST00000235958.4:c.312G>C
ENST00000374487.6:c.*783G>C	ENSP00000363611.2:n.*783G>C
ENST00000374490.7:c.742G>C	ENSP00000363614.3:p.Ala248Pro
ENST00000436439.6:c.529G>C	ENSP00000389281.2:p.Ala177Pro
ENST00000496907.1:n.377G>C
ENST00000509389.5:n.433G>C
NM_000191.2:c.742G>C	NP_000182.2:p.Ala248Pro
NM_001166059.1:c.529G>C	NP_001159531.1:p.Ala177Pro
NM_000191.3:c.742G>C MANE Select	NP_000182.2:p.Ala248Pro
NM_001166059.2:c.529G>C	NP_001159531.1:p.Ala177Pro