Canonical Allele Identifier: CA339023105

Gene: HMGCL

Linked Data

• dbSNP Id: rs1638445785
• gnomAD v4: 1-23808145-A-G
• MyVariant Identifiers: chr1:g.24134635A>G (hg19) ; chr1:g.23808145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808145A>G , CM000663.2:g.23808145A>G	GRCh38
NC_000001.10:g.24134635A>G , CM000663.1:g.24134635A>G	GRCh37
NC_000001.9:g.24007222A>G	NCBI36
NG_013061.1:g.22315T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.740T>C MANE Select	ENSP00000363614.3:p.Met247Thr
ENST00000235958.4:c.310T>C
ENST00000374487.6:c.*781T>C	ENSP00000363611.2:n.*781T>C
ENST00000374490.7:c.740T>C	ENSP00000363614.3:p.Met247Thr
ENST00000436439.6:c.527T>C	ENSP00000389281.2:p.Met176Thr
ENST00000496907.1:n.375T>C
ENST00000509389.5:n.431T>C
NM_000191.2:c.740T>C	NP_000182.2:p.Met247Thr
NM_001166059.1:c.527T>C	NP_001159531.1:p.Met176Thr
NM_000191.3:c.740T>C MANE Select	NP_000182.2:p.Met247Thr
NM_001166059.2:c.527T>C	NP_001159531.1:p.Met176Thr