Canonical Allele Identifier: CA2644076106

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23808086-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23808086G>T , CM000663.2:g.23808086G>T	GRCh38
NC_000001.10:g.24134576G>T , CM000663.1:g.24134576G>T	GRCh37
NC_000001.9:g.24007163G>T	NCBI36
NG_013061.1:g.22374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.750+49C>A MANE Select	ENSP00000363614.3:n.750+49C>A
ENST00000235958.4:c.320+49C>A
ENST00000374487.6:c.*791+49C>A	ENSP00000363611.2:n.*791+49C>A
ENST00000374490.7:c.750+49C>A	ENSP00000363614.3:n.750+49C>A
ENST00000436439.6:c.537+49C>A	ENSP00000389281.2:n.537+49C>A
ENST00000496907.1:n.385+49C>A
ENST00000509389.5:n.441+49C>A
NM_000191.2:c.750+49C>A	NP_000182.2:n.750+49C>A
NM_001166059.1:c.537+49C>A	NP_001159531.1:n.537+49C>A
NM_000191.3:c.750+49C>A MANE Select	NP_000182.2:n.750+49C>A
NM_001166059.2:c.537+49C>A	NP_001159531.1:n.537+49C>A