Canonical Allele Identifier: CA139062398
Gene: GCLC HGNC NCBI

Linked Data

dbSNP Id: rs563603873
gnomAD v2: 6-53410064-G-A
gnomAD v3: 6-53545266-G-A
gnomAD v4: 6-53545266-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53545266G>A , CM000668.2:g.53545266G>A GRCh38
NC_000006.11:g.53410064G>A , CM000668.1:g.53410064G>A GRCh37
NC_000006.10:g.53518023G>A NCBI36
NG_012071.1:g.4768C>T
NG_012071.2:g.4864C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000616923.5:c.-10+2790C>T ENSP00000482756.2:n.-10+2790C>T
ENST00000505197.1:c.-10+18851C>T ENSP00000427403.1:n.-10+18851C>T