Canonical Allele Identifier: CA1181366301
Gene: GCLM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93907322T>G , CM000663.2:g.93907322T>G GRCh38
NC_000001.10:g.94372878T>G , CM000663.1:g.94372878T>G GRCh37
NC_000001.9:g.94145466T>G NCBI36
NG_012072.1:g.7135A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370238.8:c.126+1716A>C MANE Select ENSP00000359258.3:n.126+1716A>C
ENST00000370238.7:c.126+1716A>C ENSP00000359258.3:n.126+1716A>C
ENST00000462183.1:n.260+1343A>C
ENST00000467772.1:n.126+1343A>C
ENST00000615724.1:c.126+1716A>C ENSP00000484507.1:n.126+1716A>C
NM_001308253.1:c.126+1716A>C NP_001295182.1:n.126+1716A>C
NM_002061.2:c.126+1716A>C NP_002052.1:n.126+1716A>C
NM_002061.3:c.126+1716A>C NP_002052.1:n.126+1716A>C
XM_011541261.1:c.-139+1343A>C XP_011539563.1:n.-139+1343A>C
XM_011541261.2:c.-139+1343A>C XP_011539563.1:n.-139+1343A>C
XM_017001056.2:c.126+1716A>C XP_016856545.1:n.126+1716A>C
XM_017001057.2:c.126+1716A>C XP_016856546.1:n.126+1716A>C
NM_002061.4:c.126+1716A>C MANE Select NP_002052.1:n.126+1716A>C
NM_001308253.2:c.126+1716A>C NP_001295182.1:n.126+1716A>C