Canonical Allele Identifier: CA139062414
Gene: GCLC HGNC NCBI

Linked Data

dbSNP Id: rs188699205
gnomAD v2: 6-53410079-G-A
gnomAD v3: 6-53545281-G-A
gnomAD v4: 6-53545281-G-A
MyVariant Identifiers: chr6:g.53410079G>A (hg19) chr6:g.53545281G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53545281G>A , CM000668.2:g.53545281G>A GRCh38
NC_000006.11:g.53410079G>A , CM000668.1:g.53410079G>A GRCh37
NC_000006.10:g.53518038G>A NCBI36
NG_012071.1:g.4753C>T
NG_012071.2:g.4849C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000616923.5:c.-10+2775C>T ENSP00000482756.2:n.-10+2775C>T
ENST00000505197.1:c.-10+18836C>T ENSP00000427403.1:n.-10+18836C>T
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