Canonical Allele Identifier: CA672122652

Gene:

Linked Data

• dbSNP Id: rs551348824
• MyVariant Identifiers: chr11:g.115943236G>T (hg19) ; chr11:g.116072518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072518G>T , CM000673.2:g.116072518G>T	GRCh38
NC_000011.9:g.115943236G>T , CM000673.1:g.115943236G>T	GRCh37
NC_000011.8:g.115448446G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+496C>A
XR_948056.1:n.311-5313C>A
XR_948057.1:n.97+591C>A
XR_001748401.1:n.192+496C>A
XR_948055.2:n.192+496C>A
XR_948056.2:n.314-5313C>A
XR_948057.2:n.97+591C>A