Canonical Allele Identifier: CA683994894

Gene:

Linked Data

• dbSNP Id: rs1339405291
• gnomAD v3: 12-115398730-A-T
• gnomAD v4: 12-115398730-A-T
• MyVariant Identifiers: chr12:g.115836535A>T (hg19) ; chr12:g.115398730A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115398730A>T , CM000674.2:g.115398730A>T	GRCh38
NC_000012.11:g.115836535A>T , CM000674.1:g.115836535A>T	GRCh37
NC_000012.10:g.114320918A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945389.1:n.697+8365T>A
XR_945389.2:n.701+8365T>A