Canonical Allele Identifier: CA2582241058
Gene:

Linked Data

gnomAD v3: 19-50837529-G-A
gnomAD v4: 19-50837529-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50837529G>A , CM000681.2:g.50837529G>A GRCh38
NC_000019.9:g.51340785G>A , CM000681.1:g.51340785G>A GRCh37
NC_000019.8:g.56032597G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131203.1:n.213+6236G>A
NR_131205.1:n.230+6236G>A
XR_936030.1:n.298+6236G>A
XR_936031.1:n.298+6236G>A
XR_936032.1:n.298+6236G>A
XR_936033.1:n.294+6236G>A
XR_936035.1:n.281+6236G>A
Search 100 bp 5'
Search 100 bp 3'