Canonical Allele Identifier: CA240383574

Gene:

Linked Data

• dbSNP Id: rs1039759375
• gnomAD v3: 12-84951934-C-A
• gnomAD v4: 12-84951934-C-A
• MyVariant Identifiers: chr12:g.85345713C>A (hg19) ; chr12:g.84951934C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.84951934C>A , CM000674.2:g.84951934C>A	GRCh38
NC_000012.11:g.85345713C>A , CM000674.1:g.85345713C>A	GRCh37
NC_000012.10:g.83869844C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945152.1:n.316+30620C>A
XR_945153.1:n.301+13470C>A
XR_945154.1:n.175-37008C>A
XR_945155.1:n.330+30620C>A
XR_945152.2:n.316+30620C>A
XR_945154.2:n.175-37008C>A
XR_945155.2:n.888+30620C>A