Canonical Allele Identifier: CA2090971383

Linked Data

dbSNP Id: rs192322009

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50620182C>A , CM000675.2:g.50620182C>A GRCh38
NC_000013.10:g.51194318C>A , CM000675.1:g.51194318C>A GRCh37
NC_000013.9:g.50092319C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.1033+63724G>T (DLEU7)
ENST00000470726.6:n.347-99465C>A (DLEU1)
ENST00000479420.5:n.560-28408C>A (DLEU1)
ENST00000484869.6:n.1330-11095C>A (DLEU1)