Canonical Allele Identifier: CA984456267
Gene:

Linked Data

gnomAD v3: 17-50211581-A-T
gnomAD v4: 17-50211581-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50211581A>T , CM000679.2:g.50211581A>T GRCh38
NC_000017.10:g.48288942A>T , CM000679.1:g.48288942A>T GRCh37
NC_000017.9:g.45643941A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934838.1:n.42+2175A>T
Search 100 bp 5'
Search 100 bp 3'