Canonical Allele Identifier: CA825853434
Gene: GCLC HGNC NCBI

Linked Data

dbSNP Id: rs1287095042
gnomAD v3: 6-53545347-G-T
gnomAD v4: 6-53545347-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.53545347G>T , CM000668.2:g.53545347G>T GRCh38
NC_000006.11:g.53410145G>T , CM000668.1:g.53410145G>T GRCh37
NC_000006.10:g.53518104G>T NCBI36
NG_012071.1:g.4687C>A
NG_012071.2:g.4783C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000616923.5:c.-10+2709C>A ENSP00000482756.2:n.-10+2709C>A
ENST00000505197.1:c.-10+18770C>A ENSP00000427403.1:n.-10+18770C>A