Canonical Allele Identifier: CA240383592

Gene:

Linked Data

• dbSNP Id: rs574630313
• gnomAD v3: 12-84952125-A-G
• gnomAD v4: 12-84952125-A-G
• MyVariant Identifiers: chr12:g.85345904A>G (hg19) ; chr12:g.84952125A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.84952125A>G , CM000674.2:g.84952125A>G	GRCh38
NC_000012.11:g.85345904A>G , CM000674.1:g.85345904A>G	GRCh37
NC_000012.10:g.83870035A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945152.1:n.316+30811A>G
XR_945153.1:n.301+13661A>G
XR_945154.1:n.175-36817A>G
XR_945155.1:n.330+30811A>G
XR_945152.2:n.316+30811A>G
XR_945154.2:n.175-36817A>G
XR_945155.2:n.888+30811A>G