Canonical Allele Identifier: CA364471332
Gene: GCLC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53506912C>A , CM000668.2:g.53506912C>A GRCh38
NC_000006.11:g.53371710C>A , CM000668.1:g.53371710C>A GRCh37
NC_000006.10:g.53479669C>A NCBI36
NG_012071.1:g.43122G>T
NG_012071.2:g.43218G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000513939.6:c.1083+1G>T ENSP00000424211.2:n.1083+1G>T
ENST00000616923.5:c.1038+1G>T ENSP00000482756.2:n.1038+1G>T
ENST00000643939.1:c.1203+1G>T ENSP00000495686.1:n.1203+1G>T
ENST00000650454.1:c.1197+1G>T MANE Select ENSP00000497574.1:n.1197+1G>T
ENST00000229416.10:c.1197+1G>T ENSP00000229416.6:n.1197+1G>T
ENST00000504353.1:n.166+1G>T
ENST00000509541.5:n.1642+1G>T
ENST00000616923.4:c.1083+1G>T ENSP00000482756.1:n.1083+1G>T
NM_001197115.1:c.1083+1G>T NP_001184044.1:n.1083+1G>T
NM_001498.3:c.1197+1G>T NP_001489.1:n.1197+1G>T
NM_001498.4:c.1197+1G>T MANE Select NP_001489.1:n.1197+1G>T
XM_017010749.1:c.486+1G>T XP_016866238.1:n.486+1G>T
NM_001197115.2:c.1083+1G>T NP_001184044.1:n.1083+1G>T