Canonical Allele Identifier: CA2679158249
Gene: GCLC HGNC NCBI

Linked Data

gnomAD v4: 6-53545251-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53545251A>G , CM000668.2:g.53545251A>G GRCh38
NC_000006.11:g.53410049A>G , CM000668.1:g.53410049A>G GRCh37
NC_000006.10:g.53518008A>G NCBI36
NG_012071.1:g.4783T>C
NG_012071.2:g.4879T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000616923.5:c.-10+2805T>C ENSP00000482756.2:n.-10+2805T>C
ENST00000505197.1:c.-10+18866T>C ENSP00000427403.1:n.-10+18866T>C