Canonical Allele Identifier: CA1049292763
Gene:

Linked Data

gnomAD v3: 3-70577232-A-T
gnomAD v4: 3-70577232-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577232A>T , CM000665.2:g.70577232A>T GRCh38
NC_000003.11:g.70626383A>T , CM000665.1:g.70626383A>T GRCh37
NC_000003.10:g.70709073A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.407-1279T>A
XR_001740559.1:n.367-1279T>A