Canonical Allele Identifier: CA240383568

Gene:

Linked Data

• dbSNP Id: rs986915418
• gnomAD v3: 12-84951882-A-G
• gnomAD v4: 12-84951882-A-G
• MyVariant Identifiers: chr12:g.85345661A>G (hg19) ; chr12:g.84951882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.84951882A>G , CM000674.2:g.84951882A>G	GRCh38
NC_000012.11:g.85345661A>G , CM000674.1:g.85345661A>G	GRCh37
NC_000012.10:g.83869792A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945152.1:n.316+30568A>G
XR_945153.1:n.301+13418A>G
XR_945154.1:n.174+37020A>G
XR_945155.1:n.330+30568A>G
XR_945152.2:n.316+30568A>G
XR_945154.2:n.174+37020A>G
XR_945155.2:n.888+30568A>G