Canonical Allele Identifier: CA2644080453

Gene: HMGCL

Linked Data

• gnomAD v4: 1-23817359-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817359A>G , CM000663.2:g.23817359A>G	GRCh38
NC_000001.10:g.24143849A>G , CM000663.1:g.24143849A>G	GRCh37
NC_000001.9:g.24016436A>G	NCBI36
NG_013061.1:g.13101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.252+117T>C MANE Select	ENSP00000363614.3:n.252+117T>C
ENST00000235958.4:c.131+3151T>C
ENST00000374487.6:c.*293+117T>C	ENSP00000363611.2:n.*293+117T>C
ENST00000374490.7:c.252+117T>C	ENSP00000363614.3:n.252+117T>C
ENST00000436439.6:c.252+117T>C	ENSP00000389281.2:n.252+117T>C
ENST00000498698.1:n.58+117T>C
ENST00000509389.5:n.264+117T>C
ENST00000513148.1:n.253+117T>C
NM_000191.2:c.252+117T>C	NP_000182.2:n.252+117T>C
NM_001166059.1:c.252+117T>C	NP_001159531.1:n.252+117T>C
NM_000191.3:c.252+117T>C MANE Select	NP_000182.2:n.252+117T>C
NM_001166059.2:c.252+117T>C	NP_001159531.1:n.252+117T>C