Canonical Allele Identifier: CA241972497

Gene:

Linked Data

• dbSNP Id: rs992023598
• gnomAD v3: 12-93293241-A-T
• gnomAD v4: 12-93293241-A-T
• MyVariant Identifiers: chr12:g.93687017A>T (hg19) ; chr12:g.93293241A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293241A>T , CM000674.2:g.93293241A>T	GRCh38
NC_000012.11:g.93687017A>T , CM000674.1:g.93687017A>T	GRCh37
NC_000012.10:g.92211148A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34786T>A