Canonical Allele Identifier: CA3860177
Gene: GCLC HGNC NCBI

Linked Data

ClinVar Variation Id: 2847191
ClinVar RCV Id: RCV003690669
dbSNP Id: rs374034368
gnomAD v2: 6-53372262-T-A
gnomAD v3: 6-53507464-T-A
gnomAD v4: 6-53507464-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53507464T>A , CM000668.2:g.53507464T>A GRCh38
NC_000006.11:g.53372262T>A , CM000668.1:g.53372262T>A GRCh37
NC_000006.10:g.53480221T>A NCBI36
NG_012071.1:g.42570A>T
NG_012071.2:g.42666A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000513939.6:c.970+16A>T ENSP00000424211.2:n.970+16A>T
ENST00000616923.5:c.925+16A>T ENSP00000482756.2:n.925+16A>T
ENST00000643939.1:c.1090+16A>T ENSP00000495686.1:n.1090+16A>T
ENST00000650454.1:c.1084+16A>T MANE Select ENSP00000497574.1:n.1084+16A>T
ENST00000229416.10:c.1084+16A>T ENSP00000229416.6:n.1084+16A>T
ENST00000509541.5:n.1529+16A>T
ENST00000616923.4:c.970+16A>T ENSP00000482756.1:n.970+16A>T
NM_001197115.1:c.970+16A>T NP_001184044.1:n.970+16A>T
NM_001498.3:c.1084+16A>T NP_001489.1:n.1084+16A>T
NM_001498.4:c.1084+16A>T MANE Select NP_001489.1:n.1084+16A>T
XM_017010749.1:c.373+16A>T XP_016866238.1:n.373+16A>T
NM_001197115.2:c.970+16A>T NP_001184044.1:n.970+16A>T