Canonical Allele Identifier: CA339029414

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24144070T>G (hg19) ; chr1:g.23817580T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817580T>G , CM000663.2:g.23817580T>G	GRCh38
NC_000001.10:g.24144070T>G , CM000663.1:g.24144070T>G	GRCh37
NC_000001.9:g.24016657T>G	NCBI36
NG_013061.1:g.12880A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.148A>C MANE Select	ENSP00000363614.3:p.Ile50Leu
ENST00000235958.4:c.131+2930A>C
ENST00000374487.6:c.*189A>C	ENSP00000363611.2:n.*189A>C
ENST00000374490.7:c.148A>C	ENSP00000363614.3:p.Ile50Leu
ENST00000436439.6:c.148A>C	ENSP00000389281.2:p.Ile50Leu
ENST00000509389.5:n.160A>C
ENST00000513148.1:n.149A>C
NM_000191.2:c.148A>C	NP_000182.2:p.Ile50Leu
NM_001166059.1:c.148A>C	NP_001159531.1:p.Ile50Leu
NM_000191.3:c.148A>C MANE Select	NP_000182.2:p.Ile50Leu
NM_001166059.2:c.148A>C	NP_001159531.1:p.Ile50Leu