Canonical Allele Identifier: CA243295505

Gene: CASC18

Linked Data

• dbSNP Id: rs139245068
• gnomAD v2: 12-106108600-G-A
• gnomAD v3: 12-105714822-G-A
• gnomAD v4: 12-105714822-G-A
• MyVariant Identifiers: chr12:g.106108600G>A (hg19) ; chr12:g.105714822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105714822G>A , CM000674.2:g.105714822G>A	GRCh38
NC_000012.11:g.106108600G>A , CM000674.1:g.106108600G>A	GRCh37
NC_000012.10:g.104632730G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_110108.1:n.54+10566G>A
NR_110109.1:n.55-340G>A
NR_110110.1:n.83+7966G>A
NR_110111.1:n.83+7966G>A
NR_110111.2:n.83+7966G>A