Canonical Allele Identifier: CA12296601
Gene: GCLC HGNC NCBI
KILH HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.53564474A>G
GRCh37 chr6:g.53429272A>G
gnomAD v2:
6:53429272 A / G
gnomAD v3:
6:53564474 A / G
gnomAD v4:
chr6-53564474-A-G
Joint Max Group AF 0.25086127 (EAS)
Genomes Max Group AF 0.25086127 (EAS)
Exomes Max Group AF 0.14933155 (NFE)
dbSNP:
1883633
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53564474A>G , CM000668.2:g.53564474A>G GRCh38
NC_000006.11:g.53429272A>G , CM000668.1:g.53429272A>G GRCh37
NC_000006.10:g.53537231A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000505197.1:c.-313-54T>C (GCLC) ENSP00000427403.1:n.-313-54T>C
NR_110840.1:n.400-54T>C (KILH)
Search 100 bp 5'
Search 100 bp 3'