Canonical Allele Identifier: CA1158967963

Gene: HMGCL

Linked Data

• dbSNP Id: rs1314432459
• gnomAD v4: 1-23817371-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23817371G>A , CM000663.2:g.23817371G>A	GRCh38
NC_000001.10:g.24143861G>A , CM000663.1:g.24143861G>A	GRCh37
NC_000001.9:g.24016448G>A	NCBI36
NG_013061.1:g.13089C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374490.8:c.252+105C>T MANE Select	ENSP00000363614.3:n.252+105C>T
ENST00000235958.4:c.131+3139C>T
ENST00000374487.6:c.*293+105C>T	ENSP00000363611.2:n.*293+105C>T
ENST00000374490.7:c.252+105C>T	ENSP00000363614.3:n.252+105C>T
ENST00000436439.6:c.252+105C>T	ENSP00000389281.2:n.252+105C>T
ENST00000498698.1:n.58+105C>T
ENST00000509389.5:n.264+105C>T
ENST00000513148.1:n.253+105C>T
NM_000191.2:c.252+105C>T	NP_000182.2:n.252+105C>T
NM_001166059.1:c.252+105C>T	NP_001159531.1:n.252+105C>T
NM_000191.3:c.252+105C>T MANE Select	NP_000182.2:n.252+105C>T
NM_001166059.2:c.252+105C>T	NP_001159531.1:n.252+105C>T