Canonical Allele Identifier: CA364478322

Gene: GCLC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53520844C>T , CM000668.2:g.53520844C>T	GRCh38
NC_000006.11:g.53385642C>T , CM000668.1:g.53385642C>T	GRCh37
NC_000006.10:g.53493601C>T	NCBI36
NG_012071.1:g.29190G>A
NG_012071.2:g.29286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513939.6:c.380G>A	ENSP00000424211.2:p.Arg127His
ENST00000514933.2:n.311G>A
ENST00000616923.5:c.221G>A	ENSP00000482756.2:p.Arg74His
ENST00000643939.1:c.368G>A	ENSP00000495686.1:p.Arg123His
ENST00000650454.1:c.380G>A MANE Select	ENSP00000497574.1:p.Arg127His
ENST00000229416.10:c.380G>A	ENSP00000229416.6:p.Arg127His
ENST00000504525.1:c.151-6312G>A	ENSP00000421228.1:n.151-6312G>A
ENST00000505294.5:c.221G>A	ENSP00000421629.1:p.Arg74His
ENST00000513939.5:c.343G>A
ENST00000514004.5:c.380G>A	ENSP00000421908.1:p.Arg127His
ENST00000514933.1:c.221G>A	ENSP00000423615.1:p.Arg74His
ENST00000616923.4:c.380G>A	ENSP00000482756.1:p.Arg127His
NM_001197115.1:c.380G>A	NP_001184044.1:p.Arg127His
NM_001498.3:c.380G>A	NP_001489.1:p.Arg127His
NM_001498.4:c.380G>A MANE Select	NP_001489.1:p.Arg127His
XM_017010749.1:c.-367G>A	XP_016866238.1:n.-367G>A
NM_001197115.2:c.380G>A	NP_001184044.1:p.Arg127His