Canonical Allele Identifier: CA339029266

Gene: HMGCL

Linked Data

• MyVariant Identifiers: chr1:g.24144036T>A (hg19) ; chr1:g.23817546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817546T>A , CM000663.2:g.23817546T>A	GRCh38
NC_000001.10:g.24144036T>A , CM000663.1:g.24144036T>A	GRCh37
NC_000001.9:g.24016623T>A	NCBI36
NG_013061.1:g.12914A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.182A>T MANE Select	ENSP00000363614.3:p.Asp61Val
ENST00000235958.4:c.131+2964A>T
ENST00000374487.6:c.*223A>T	ENSP00000363611.2:n.*223A>T
ENST00000374490.7:c.182A>T	ENSP00000363614.3:p.Asp61Val
ENST00000436439.6:c.182A>T	ENSP00000389281.2:p.Asp61Val
ENST00000509389.5:n.194A>T
ENST00000513148.1:n.183A>T
NM_000191.2:c.182A>T	NP_000182.2:p.Asp61Val
NM_001166059.1:c.182A>T	NP_001159531.1:p.Asp61Val
NM_000191.3:c.182A>T MANE Select	NP_000182.2:p.Asp61Val
NM_001166059.2:c.182A>T	NP_001159531.1:p.Asp61Val