Canonical Allele Identifier: CA2679158297
Gene: GCLC HGNC NCBI

Linked Data

gnomAD v4: 6-53545255-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53545255G>T , CM000668.2:g.53545255G>T GRCh38
NC_000006.11:g.53410053G>T , CM000668.1:g.53410053G>T GRCh37
NC_000006.10:g.53518012G>T NCBI36
NG_012071.1:g.4779C>A
NG_012071.2:g.4875C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000616923.5:c.-10+2801C>A ENSP00000482756.2:n.-10+2801C>A
ENST00000505197.1:c.-10+18862C>A ENSP00000427403.1:n.-10+18862C>A
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