Canonical Allele Identifier: CA229981113

Gene:

Linked Data

• dbSNP Id: rs527322096
• gnomAD v3: 11-116072525-A-T
• gnomAD v4: 11-116072525-A-T
• MyVariant Identifiers: chr11:g.115943243A>T (hg19) ; chr11:g.116072525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072525A>T , CM000673.2:g.116072525A>T	GRCh38
NC_000011.9:g.115943243A>T , CM000673.1:g.115943243A>T	GRCh37
NC_000011.8:g.115448453A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+489T>A
XR_948056.1:n.311-5320T>A
XR_948057.1:n.97+584T>A
XR_001748401.1:n.192+489T>A
XR_948055.2:n.192+489T>A
XR_948056.2:n.314-5320T>A
XR_948057.2:n.97+584T>A