Canonical Allele Identifier: CA686000

Gene: HMGCL

Linked Data

• dbSNP Id: rs773562963
• ExAC: 1:24134652 G / A
• gnomAD v2: 1-24134652-G-A
• MyVariant Identifiers: chr1:g.24134652G>A (hg19) ; chr1:g.23808162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808162G>A , CM000663.2:g.23808162G>A	GRCh38
NC_000001.10:g.24134652G>A , CM000663.1:g.24134652G>A	GRCh37
NC_000001.9:g.24007239G>A	NCBI36
NG_013061.1:g.22298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.723C>T MANE Select	ENSP00000363614.3:p.Ala241=
ENST00000235958.4:c.293C>T
ENST00000374487.6:c.*764C>T	ENSP00000363611.2:n.*764C>T
ENST00000374490.7:c.723C>T	ENSP00000363614.3:p.Ala241=
ENST00000436439.6:c.510C>T	ENSP00000389281.2:p.Ala170=
ENST00000496907.1:n.358C>T
ENST00000509389.5:n.414C>T
NM_000191.2:c.723C>T	NP_000182.2:p.Ala241=
NM_001166059.1:c.510C>T	NP_001159531.1:p.Ala170=
NM_000191.3:c.723C>T MANE Select	NP_000182.2:p.Ala241=
NM_001166059.2:c.510C>T	NP_001159531.1:p.Ala170=