Canonical Allele Identifier: CA2644083779

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23802453-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23802453G>A , CM000663.2:g.23802453G>A	GRCh38
NC_000001.10:g.24128943G>A , CM000663.1:g.24128943G>A	GRCh37
NC_000001.9:g.24001530G>A	NCBI36
NG_007068.1:g.3352C>T
NG_013061.1:g.28007C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.*10C>T MANE Select	ENSP00000363614.3:n.*10C>T
ENST00000235958.4:c.558C>T
ENST00000374487.6:c.*1029C>T	ENSP00000363611.2:n.*1029C>T
ENST00000374490.7:c.*10C>T	ENSP00000363614.3:n.*10C>T
ENST00000436439.6:c.*10C>T	ENSP00000389281.2:n.*10C>T
NM_000191.2:c.*10C>T	NP_000182.2:n.*10C>T
NM_001166059.1:c.*10C>T	NP_001159531.1:n.*10C>T
NM_000191.3:c.*10C>T MANE Select	NP_000182.2:n.*10C>T
NM_001166059.2:c.*10C>T	NP_001159531.1:n.*10C>T