Canonical Allele Identifier: CA364470663

Gene: GCLC GCLC-AS1

Linked Data

• ClinVar Variation Id: 2432086
• ClinVar RCV Id: RCV003131004
• MyVariant Identifiers: chr6:g.53370611C>G (hg19) ; chr6:g.53505813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53505813C>G , CM000668.2:g.53505813C>G	GRCh38
NC_000006.11:g.53370611C>G , CM000668.1:g.53370611C>G	GRCh37
NC_000006.10:g.53478570C>G	NCBI36
NG_012071.1:g.44221G>C
NG_012071.2:g.44317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513939.6:c.1166G>C (GCLC)	ENSP00000424211.2:p.Arg389Pro
ENST00000514373.3:n.86G>C (GCLC)
ENST00000616923.5:c.1121G>C (GCLC)	ENSP00000482756.2:p.Arg374Pro
ENST00000643939.1:c.1286G>C (GCLC)	ENSP00000495686.1:p.Arg429Pro
ENST00000650454.1:c.1280G>C (GCLC) MANE Select	ENSP00000497574.1:p.Arg427Pro
ENST00000229416.10:c.1280G>C (GCLC)	ENSP00000229416.6:p.Arg427Pro
ENST00000504353.1:n.249G>C (GCLC)
ENST00000509541.5:n.1725G>C (GCLC)
ENST00000514373.2:c.83G>C (GCLC)	ENSP00000426578.2:p.Arg28Pro
ENST00000616923.4:c.1166G>C (GCLC)	ENSP00000482756.1:p.Arg389Pro
NM_001197115.1:c.1166G>C (GCLC)	NP_001184044.1:p.Arg389Pro
NM_001498.3:c.1280G>C (GCLC)	NP_001489.1:p.Arg427Pro
XR_926886.1:n.1865-341C>G (GCLC-AS1)
XR_926887.1:n.1865-347C>G (GCLC-AS1)
XR_926888.1:n.87-341C>G (GCLC-AS1)
XR_926889.1:n.56-341C>G (GCLC-AS1)
NM_001498.4:c.1280G>C (GCLC) MANE Select	NP_001489.1:p.Arg427Pro
XM_017010749.1:c.569G>C (GCLC)	XP_016866238.1:p.Arg190Pro
XR_926886.2:n.191-341C>G (GCLC-AS1)
NM_001197115.2:c.1166G>C (GCLC)	NP_001184044.1:p.Arg389Pro