Canonical Allele Identifier: CA645691270
Gene: HMGCL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23802434A>G , CM000663.2:g.23802434A>G GRCh38
NC_000001.10:g.24128924A>G , CM000663.1:g.24128924A>G GRCh37
NC_000001.9:g.24001511A>G NCBI36
NG_007068.1:g.3371T>C
NG_013061.1:g.28026T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374490.8:c.*29T>C MANE Select ENSP00000363614.3:n.*29T>C
ENST00000235958.4:c.577T>C
ENST00000374487.6:c.*1048T>C ENSP00000363611.2:n.*1048T>C
ENST00000374490.7:c.*29T>C ENSP00000363614.3:n.*29T>C
ENST00000436439.6:c.*29T>C ENSP00000389281.2:n.*29T>C
NM_000191.2:c.*29T>C NP_000182.2:n.*29T>C
NM_001166059.1:c.*29T>C NP_001159531.1:n.*29T>C
NM_000191.3:c.*29T>C MANE Select NP_000182.2:n.*29T>C
NM_001166059.2:c.*29T>C NP_001159531.1:n.*29T>C