Canonical Allele Identifier: CA1181366300

Gene: GCLM

Genomic Alleles

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

Transcript Alleles

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