Canonical Allele Identifier: CA450448682
Gene: GCLC HGNC NCBI
GCLC-AS1 HGNC NCBI

Linked Data

gnomAD v4: 6-53506906-A-G
MyVariant Identifiers: chr6:g.53371704A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53506906A>G , CM000668.2:g.53506906A>G GRCh38
NC_000006.11:g.53371704A>G , CM000668.1:g.53371704A>G GRCh37
NC_000006.10:g.53479663A>G NCBI36
NG_012071.1:g.43128T>C
NG_012071.2:g.43224T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513939.6:c.1083+7T>C (GCLC) ENSP00000424211.2:n.1083+7T>C
ENST00000616923.5:c.1038+7T>C (GCLC) ENSP00000482756.2:n.1038+7T>C
ENST00000643939.1:c.1203+7T>C (GCLC) ENSP00000495686.1:n.1203+7T>C
ENST00000650454.1:c.1197+7T>C (GCLC) MANE Select ENSP00000497574.1:n.1197+7T>C
ENST00000229416.10:c.1197+7T>C (GCLC) ENSP00000229416.6:n.1197+7T>C
ENST00000504353.1:n.166+7T>C (GCLC)
ENST00000509541.5:n.1642+7T>C (GCLC)
ENST00000616923.4:c.1083+7T>C (GCLC) ENSP00000482756.1:n.1083+7T>C
NM_001197115.1:c.1083+7T>C (GCLC) NP_001184044.1:n.1083+7T>C
NM_001498.3:c.1197+7T>C (GCLC) NP_001489.1:n.1197+7T>C
XR_926886.1:n.2254A>G (GCLC-AS1)
XR_926887.1:n.2248A>G (GCLC-AS1)
XR_926888.1:n.476A>G (GCLC-AS1)
XR_926889.1:n.445A>G (GCLC-AS1)
NM_001498.4:c.1197+7T>C (GCLC) MANE Select NP_001489.1:n.1197+7T>C
XM_017010749.1:c.486+7T>C (GCLC) XP_016866238.1:n.486+7T>C
XR_926886.2:n.580A>G (GCLC-AS1)
NM_001197115.2:c.1083+7T>C (GCLC) NP_001184044.1:n.1083+7T>C