Canonical Allele Identifier: CA139062382

Gene: GCLC

Linked Data

• ClinVar Variation Id: 439753
• ClinVar RCV Id: RCV001724034 ; RCV001839455
• dbSNP Id: rs17883901
• gnomAD v2: 6-53410037-G-A
• gnomAD v3: 6-53545239-G-A
• gnomAD v4: 6-53545239-G-A
• MyVariant Identifiers: chr6:g.53410037G>A (hg19) ; chr6:g.53545239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53545239G>A , CM000668.2:g.53545239G>A	GRCh38
NC_000006.11:g.53410037G>A , CM000668.1:g.53410037G>A	GRCh37
NC_000006.10:g.53517996G>A	NCBI36
NG_012071.1:g.4795C>T
NG_012071.2:g.4891C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000616923.5:c.-10+2817C>T	ENSP00000482756.2:n.-10+2817C>T
ENST00000505197.1:c.-10+18878C>T	ENSP00000427403.1:n.-10+18878C>T